Genomes and Genes
Summary: A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.
Publications245 found, 100 shown here
- Polydactyly and genesShubha R Phadke
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
Indian J Pediatr 77:277-81. 2010..Genetics of hand development and genes involved in polydactyly syndromes is discussed in this article as a prototype to know about genetics of malformations: how it is ..
- Polydactyly and ectopic ZPA formation in Alx-4 mutant miceS Qu
Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, TN 37232, USA
Development 124:3999-4008. 1997..and mice homozygous for targeted disruption of the Alx-4 gene have multiple abnormalities, including preaxial polydactyly. The polydactyly is associated with the formation of an ectopic anterior ZPA, as indicated by anterior ..
- Limb malformations and the human HOX genesFrances R Goodman
Molecular Medicine Unit, Institute of Child Health, London, England
Am J Med Genet 112:256-65. 2002..Limb malformations may also result from chromosomal deletions involving the HOXD and HOXA clusters, and from regulatory mutations affecting single or multiple HOX genes...
- Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsJennifer J Johnston
National Institutes of Health, National Human Genome Research Institute, Bethesda, MD 20892 4472, USA
Am J Hum Genet 76:609-22. 2005..These results demonstrate a robust correlation of genotype and phenotype for GLI3 mutations and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis...
- A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactylyLaura A Lettice
MRC Human Genetics Unit, Western General Hospital, Crewe Rd, Edinburgh EH4 2XU, Scotland, UK
Hum Mol Genet 12:1725-35. 2003..Here, we show that the chromosome 7q36 associated preaxial polydactyly, a frequently observed congenital limb malformation, results from point mutations in a Shh regulatory element...
- The chicken talpid3 gene encodes a novel protein essential for Hedgehog signalingMegan G Davey
Division of Cell and Developmental Biology, Wellcome Trust Biocentre WTB, University of Dundee, Dundee DD1 5EH, United Kingdom
Genes Dev 20:1365-77. 2006..These results suggest that the talpid3 protein operates in the cytoplasm to regulate the activity of both Gli repressor and activator proteins...
- Opposing functions of the ETS factor family define Shh spatial expression in limb buds and underlie polydactylyLaura A Lettice
MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
Dev Cell 22:459-67. 2012..Two point mutations within the ZRS change the profile of ETS binding and activate Shh expression at an ectopic site in the limb bud. These molecular changes define a pathogenetic mechanism that leads to preaxial polydactyly (PPD).
- Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactylyVincent Marion
Laboratoire Physiopathologiedes syndromes rareshéréditaires, INSERM Avenir, Universite de Strasbourg, Strasbourg, France
J Med Genet 49:317-21. 2012..Syndrome (BBS) is an emblematic recessive genetically highly heterogeneous ciliopathy characterised mainly by polydactyly, retinitis pigmentosa, obesity, cognitive impairment, and kidney dysfunction...
- Preaxial polydactyly caused by Gli3 haploinsufficiency is rescued by Zic3 loss of function in miceMalgorzata E Quinn
Division of Molecular Cardiovascular Biology, Cincinnati Children s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA
Hum Mol Genet 21:1888-96. 2012..GLI3, a mediator of hedgehog signaling, is a genetic cause of limb malformations including pre- and postaxial polydactyly, Pallister-Hall syndrome and Greig cephalopolysyndactyly...
- Genomic regions associated with dermal hyperpigmentation, polydactyly and other morphological traits in the Silkie chickenBen Dorshorst
Department of Poultry Science, North Carolina State University, 134E Scott Hall, Campus Box 7608, NC 27695, USA
J Hered 101:339-50. 2010..A single SNP in a highly conserved cis-regulatory region of Sonic Hedgehog was significantly associated with polydactyly (Po)...
- Preaxial polydactyly: interactions among ETV, TWIST1 and HAND2 control anterior-posterior patterning of the limbZhen Zhang
Laboratory of Genetics, University of Wisconsin Madison, Madison, WI 53706, USA
Development 137:3417-26. 2010Preaxial polydactyly (PPD) is a common limb-associated birth defect characterized by extra digit(s) in the anterior autopod. It often results from ectopic sonic hedgehog (Shh) expression in the anterior limb bud...
- Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactylyChristina A Gurnett
Department of Neurology, Washington University School of Medicine, St Louis, Missouri, USA
Am J Med Genet A 143:27-32. 2007..highly conserved ZRS have been described in the hemimelic extra toes mouse and in four families with preaxial polydactyly [Lettice et al., 2003]...
- The chicken polydactyly (Po) locus causes allelic imbalance and ectopic expression of Shh during limb developmentIan C Dunn
Division of Genetics and Genomics, The Roslin Institute and Royal Dick School of Veterinary Studies, University of Edinburgh, Roslin, Midlothian, UK
Dev Dyn 240:1163-72. 2011..ZRS region of Lmbr1, a limb specific cis-regulatory element of Sonic hedgehog (Shh), are associated with polydactyly in humans, cats, and mice...
- Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type AUmm E Kalsoom
Department of Biochemistry, Quaid i Azam University Islamabad, Islamabad, Pakistan
J Med Genet 50:47-53. 2013Postaxial polydactyly (PAP) type A is characterised by well-formed functionally developed 5th digit duplication in hands and/or feet. It is genetically heterogeneous condition, inherited both in autosomal recessive and dominant manners...
- The bHLH transcription factor dHAND controls Sonic hedgehog expression and establishment of the zone of polarizing activity during limb developmentJ Charite
Department of Molecular Biology, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390 9148, USA
Development 127:2461-70. 2000..by ectopic expression of Shh and its target genes, and resulting limb abnormalities that include preaxial polydactyly with duplication of posterior skeletal elements...
- FGF-regulated Etv genes are essential for repressing Shh expression in mouse limb budsZhen Zhang
Laboratory of Genetics, University of Wisconsin Madison, Madison, WI 53706, USA
Dev Cell 16:607-13. 2009..factor genes Etv4 and Etv5 in mouse led to ectopic Shh expression in the anterior limb bud and a preaxial polydactyly (PPD) skeletal phenotype...
- Preaxial polydactyly: a model for defective long-range regulation in congenital abnormalitiesLaura A Lettice
MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK
Curr Opin Genet Dev 15:294-300. 2005..limb-specific regulatory element of the SHH gene are responsible for the human limb abnormality called preaxial polydactyly (PPD)...
- Mutations in mouse Aristaless-like4 cause Strong's luxoid polydactylyS Qu
Departments of Biochemistry and Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA
Development 125:2711-21. 1998..Alx4 haploinsufficiency and the importance of strain-specific modifiers leading to polydactyly are indicative of a critical threshold requirement for Alx4 in a genetic program operating to restrict ..
- Mouse hitchhiker mutants have spina bifida, dorso-ventral patterning defects and polydactyly: identification of Tulp3 as a novel negative regulator of the Sonic hedgehog pathwayVictoria L Patterson
Mammalian Genetics Unit, MRC Harwell, Harwell Science and Innovation Campus, Oxon, UK
Hum Mol Genet 18:1719-39. 2009..of Shh signalling leads to multiple birth defects, including holoprosencephaly, neural tube defects and polydactyly, and in adults results in tumours of the skin or central nervous system...
- Distribution of polarizing activity and potential for limb formation in mouse and chick embryos and possible relationships to polydactylyM Tanaka
Department of Anatomy and Physiology, Wellcome Trust Biocentre, University of Dundee, Dow Street, Dundee DD1 5EH, UK
Development 127:4011-21. 2000..Taken together these observations suggest that naturally occurring polydactyly could involve recruitment of cells from regions adjacent to the limb buds...
- A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumbDagmar Wieczorek
Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstr 55, Essen 45122, Germany
Hum Mutat 31:81-9. 2010..with unknown molecular etiology characterized by hypo- or aplasia of the tibiae in addition to the preaxial polydactyly (PPD) of the hands and feet and/or five-fingered hand with absence of thumbs...
- Progression of vertebrate limb development through SHH-mediated counteraction of GLI3Pascal te Welscher
Department of Developmental Biology, Faculty of Biology, Utrecht University, Padualaan 8, NL 3584 CH Utrecht, Netherlands
Science 298:827-30. 2002..duplications and has been suspected as a major cause underlying congenital malformations that result in digit polydactyly. Here, we report that the polydactyly of Gli3-deficient mice arises independently of SHH signaling...
- Single nucleotide polymorphisms in the chicken Lmbr1 gene are associated with chicken polydactylyYan Qun Huang
State Key Laboratory of Biotechnology, China Agricultural University, Beijing, 1000094 China
Gene 374:10-8. 2006b>Polydactyly is a common malformation of vertebrate limbs. Preaxial polydactyly (PPD) has been mapped in human, mouse and chicken to the syntenic region of human 7q36...
- De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeGhayda M Mirzaa
1 Center for Integrative Brain Research, Seattle Children s Research Institute, Seattle, Washington, USA 2 Department of Pediatrics, University of Washington, Seattle, Washington, USA 3
Nat Genet 46:510-5. 2014..genes encoding phosphatidylinositol 3-kinase (PI3K)-AKT pathway components cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH, OMIM 603387)...
- Identification of sonic hedgehog as a candidate gene responsible for the polydactylous mouse mutant SasquatchJ Sharpe
Division of Developmental Neurobiology, MRC National Institute for Medical Research, The Ridgeway Mill Hill, London, NW7 1AA, UK
Curr Biol 9:97-100. 1999..lst, Dh, Xt, and the more recently identified Hx, Xpl and Rim4;     ) have in common preaxial polydactyly and longbone abnormalities...
- Role of dHAND in the anterior-posterior polarization of the limb bud: implications for the Sonic hedgehog pathwayM Fernandez-Teran
Departamento de Anatomia y Biologia Celular, Universidad de Cantabria, Spain
Development 127:2133-42. 2000..Retroviral overexpression of dHAND in the limb bud produced preaxial polydactyly, corresponding to mild polarizing activity at the anterior border...
- Evidence that preaxial polydactyly in the Doublefoot mutant is due to ectopic Indian Hedgehog signalingY Yang
Department of Molecular and Cellular Biology, The Biolabs, Harvard University, Cambridge, MA 02138, USA
Development 125:3123-32. 1998..Several naturally occurring mouse mutations with the phenotype of preaxial polydactyly exhibit ectopic Shh expression at the anterior limb margin...
- Polydactyly: how many disorders and how many genes?Leslie G Biesecker
National Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland 20892, USA
Am J Med Genet 112:279-83. 2002Disorders that include polydactyly as a manifestation are diverse and numerous...
- Congenital benign teratoma of the tongue with bifid tip, ankyloglossia and polydactyly: report of a caseNeelam N Andrade
Department of Oral and Maxillo Facial Surgery, Nair Hospital Dental College, Dr A L Nair Road, Mumbai 400008, India
Br J Oral Maxillofac Surg 48:e29-30. 2010..We describe a combination of anomalies in a 6-week-old infant with teratoma and bifid tip of the tongue, severe tongue tie, and polydactyly. The teratoma was excised and the tongue tie released with no complications.
- Effects of electromagnetic pulse on polydactyly of mouse fetusesMing Juan Yang
Department of Radiation Medicine and the Ministry of Education Key Lab of Hazard Assessment and Control in Special Operational Environment, School of Public Health, Fourth Military Medical University, Xi an, Shaanxi, China
Theriogenology 80:18-23. 2013..To determine the effects of electromagnetic pulse (EMP) on polydactyly of mouse fetuses, pregnant mice were sham-exposed or exposed to EMP (400 kV/m with 400 pulses) from Days 7 to ..
- Single base pair change in the long-range Sonic hedgehog limb-specific enhancer is a genetic basis for preaxial polydactylySarah A Maas
Department of Biomolecular Chemistry, University of Wisconsin, Madison, WI 53706, USA
Dev Dyn 232:345-8. 2005In most instances of preaxial polydactyly (PPD), Sonic Hedgehog (Shh), an essential limb patterning signal, is ectopically expressed in an anterior region of the developing limb in addition to the normal posterior domain...
- Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locusT D Howard
Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21287 3914, USA
Am J Hum Genet 61:1405-12. 1997..acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature...
- Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigreeBaowen Cheng
Key Laboratory of Bioresources Conservation and Utilization, Human Genetics Center of Yunnan University, Yunnan, P R China
J Clin Lab Anal 20:133-8. 2006b>Polydactyly is one of the most common forms of congenital malformation in humans, and is displayed by 119 disorders...
- Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1David A Koolen
Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands
J Hum Genet 51:721-6. 2006..HPE, epilepsy, mild pyramidal syndrome of the legs, ventricular septal defect, vesicoureteral reflux, preaxial polydactyly, and facial dysmorphisms...
- Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactylyEva Klopocki
Institut für Medizinische Genetik und Humangenetik, Charite Universitatsmedizin Berlin, Berlin, Germany
Eur J Hum Genet 20:705-8. 2012..In addition, one affected individual showed a polydactyly and right-sided tibial hemimelia...
- The expression of preaxial polydactyly is influenced by modifying genetic elements and is not maintained by chromosomal inversion in an avian biomedical modelE A Robb
Department of Animal Science, University of California, Davis, CA 95616, USA
Cytogenet Genome Res 136:50-68. 2012b>Polydactyly (Po) is a common mutation found in many vertebrates. The UCD-Po.003 congenic chicken line was previously characterized for Po inheritance (autosomal dominant) and the mutation was mapped to chromosome 2p...
- Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehogChristian Babbs
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK
Mech Dev 125:517-26. 2008The mouse mutant Doublefoot (Dbf) shows preaxial polydactyly with 6-9 triphalangeal digits in all four limbs and additional abnormalities including a broadened skull, hydrocephalus, and a thickened, kinked tail...
- Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-IH Fujioka
Department of Plastic Surgery, Hokkaido University Graduate School of Medicine, Hokkaido 060 8638, Japan
Clin Genet 67:429-33. 2005..of digital abnormality such as Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type-IV (PPD-IV) and postaxial polydactyly...
- Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotesC N Semerci
Department of Medical Biology, Center for Genetic Diagnosis, School of Medicine, Pamukkale University, Denizli, Turkey
Clin Genet 76:85-90. 2009Preaxial polydactyly is a common limb malformation in humans with variable clinical expression. Different types of triphalangeal thumb-preaxial polydactyly phenotypes were mapped to the chromosome 7q36 region...
- Late psychosocial effects of congenital hand anomalyMetin Manouchehr Eskandari
Department of Orthopedics and Traumatology, University of Mersin, School of Medicine, Mersin, Turkey
Hand Surg 9:257-9. 2004..Herein, two adult cases of untreated thumb polydactyly are presented. Both of them had hands with striking appearance and late consequent psychosocial problems.
- De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bonesM B Delatycki
J Med Genet 40:e92. 2003
- Syndrome of megalencephaly, polydactyly, and polymicrogyria lacking frank hydrocephalus, with associated MR imaging findingsH G Tore
Department of Radiology, Baskent University Faculty of Medicine, Ankara, Turkey
AJNR Am J Neuroradiol 30:1620-2. 2009Megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome has been recently recognized and is very rare. Each case reported so far has demonstrated hydrocephalus to varying degrees...
- The Fused toes (Ft) mouse mutation causes anteroposterior and dorsoventral polydactylyLars Grotewold
Institut für Entwicklungs und Molekularbiologie der Tiere EMT, Heinrich Heine Universitat, 40225 Dusseldorf, Germany
Dev Biol 251:129-41. 2002..distal truncations of skeletal elements as well as an anteroposterior and an unusual form of dorsoventral polydactyly. Ectopic activation of the Shh signalling cascade in the distal-most mesoderm together with malformations of ..
- Thumb polydactyly: clinical outcome after reconstructionC H Yen
Department of Orthopaedics and Traumatology, Kwong Wah Hospital, Yaumatei, Hong Kong
J Orthop Surg (Hong Kong) 14:295-302. 2006To evaluate clinical and cosmetic outcomes of reconstruction in thumb polydactyly and prognostic value of the Wassel classification.
- Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant?Helga V Toriello
Spectrum Health Genetics Services, Grand Rapids, MI, USA
Clin Dysmorphol 11:19-23. 2002We report on a female infant with postaxial polydactyly of the hands, preaxial polydactyly of the right foot, cleft palate, microglossia and tongue hamartomata consistent with an oral-facial-digital syndrome (OFDS)...
- Thumb/hallux duplication and preaxial polydactyly type II M Orioli
ECLAMC Latin American Collaborative Study of Congenital Malformations, WHO Collaborating Centre for the Prevention of Birth Defects at Departamento de Genética, Universidade Federal do Rio de Janeiro, Brazil
Am J Med Genet 82:219-24. 1999It was recently shown that hand postaxial polydactyly differed from foot postaxial polydactyly...
- Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRSMuhammad Farooq
Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering NIBGE, Faisalabad, Pakistan
Eur J Hum Genet 18:733-6. 2010..on transcription factor binding of a novel ZRS point mutation (463T>G) in a Pakistani family with preaxial polydactyly and triphalangeal thumb...
- Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesisGhayda M Mirzaa
Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA
Am J Med Genet A 158:269-91. 2012..malformation-polymicrogyria syndrome), and the more recently described megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) are two megalencephaly (MEG) disorders that involve a unique constellation of ..
- Maternal cigarette smoking during pregnancy increases the risk of having a child with a congenital digital anomalyLi Xing Man
Division of Plastic Surgery, Health System, School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
Plast Reconstr Surg 117:301-8. 2006The U.S. Natality database from 2001 and 2002 was used to investigate the relationship between maternal cigarette smoking during pregnancy and the risk of having a child with polydactyly, syndactyly, or adactyly.
- Polydactyly of the feet in children: suggestions for surgical managementS E Morley
Department of Plastic Surgery, Great Ormond Street Hospital, London, UK
Br J Plast Surg 54:34-8. 2001b>Polydactyly is the commonest congenital deformity of the foot, presenting as a range of defects from minor soft tissue duplications to major bony abnormalities...
- 14q(22) deletion in a familial case of anophthalmia with polydactylyM E Ahmad
Genetics Division, Department of Anatomy, All India Institute of Medical Sciences, New Delhi 110029, India
Am J Med Genet A 120:117-22. 2003..The proband, his three sisters, and two sons had anophthalmia and preaxial polydactyly in the right hand. Cytogenetic analysis was done for the proband and two of his sons, one of whom was affected...
- Thumb size and appearance following reconstruction of radial polydactylyCharles A Goldfarb
Department of Orthopaedic Surgery, Washington University School of Medicine, St Louis, MO 63110, USA
J Hand Surg Am 33:1348-53. 2008To evaluate thumb size, shape, and appearance after surgical correction of radial polydactyly.
- Deletion of a conserved noncoding sequence in Plzf intron leads to Plzf down-regulation in limb bud and polydactyly in the ratFrantisek Liska
Institute of Biology and Medical Genetics of the 1st Faculty of Medicine and General Teaching Hospital, Charles University in Prague, Praha, Czech Republic
Dev Dyn 238:673-84. 2009Lx mutation in SHR.Lx rat manifests in homozygotes as hindlimb preaxial polydactyly. It was previously mapped to a chromosome 8 segment containing the Plzf gene...
- A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumbTobias Laurell
Department of Clinical Science and Education, Sodersjukhuset, Karolinska Institutet, Stockholm, Sweden
Hum Mutat 33:1063-6. 2012..have been proposed based on the limb phenotype; single base changes throughout the region cause preaxial polydactyly (PPD), single base changes at one specific site cause Werner mesomelic syndrome, and large duplications cause ..
- CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variantTatsuya Furuichi
Center for Genomic Medicine, RIKEN, Tokyo, Japan
J Med Genet 48:32-7. 2011..Mutations in the gene that encodes for CANT1 (calcium-activated nucleotidase 1) have been identified in a subset of patients with DD type 1...
- Treatment of lateral ray polydactyly of the foot: focusing on the selection of the toe to be excisedHirokazu Uda
Department of Plastic and Reconstructive Surgery, Jichi Medical School, Tochigi, Japan
Plast Reconstr Surg 109:1581-91. 2002The purposes of this study were to evaluate the results of the operative treatment of lateral ray polydactyly and to consider appropriate surgical procedures, especially focusing on the selection of the toe, lateral toe or medial toe, to ..
- Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactylyJ Albuisson
CHU Nantes, Service de Genetique Medicale, 9 quai Moncousu, Nantes Cedex 01, France
Clin Genet 79:371-7. 2011Pre-axial polydactyly type II (PPDII, MIM #174500), Werner mesomelic syndrome (MIM %188770) and Haas polysyndactyly (MIM #186200) are a group of closely related conditions caused by mutations in a long-range Sonic hedgehog (SHH, MIM *..
- A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feetShinji Kondoh
Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto, Japan
J Hum Genet 47:136-9. 2002Mirror-image polydactyly of hands and feet (MIP) is a very rare congenital anomaly characterized by mirror-image duplication of digits...
- A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?Anne M Slavotinek
Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Am J Med Genet A 129:69-72. 2004..caused by complete lack of Müllerian fusion with vaginal agenesis or Müllerian aplasia (MA), postaxial polydactyly (PAP), and tetralogy of Fallot...
- Congenital malformations among infants whose mothers had gestational diabetes or preexisting diabetesA Aberg
The Department of Obstetrics and Gynaecology, Lund University Hospital, S 221 85, Lund, Sweden
Early Hum Dev 61:85-95. 2001..Diabetes type 1 is associated with an increased risk for infant congenital malformations. It is debated whether this is true also at gestational diabetes...
- Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactylyLaura A Lettice
MRC Human Genetics Unit, Western General Hospital, Crewe Rd, Edinburgh EH4 2XU, UK
Hum Mol Genet 17:978-85. 2008..The congenital abnormality preaxial polydactyly, extra digits, is an example of this novel class of mutations and is caused by ectopic expression of the ..
- Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutationsJennifer J Johnston
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
Hum Mutat 31:1142-54. 2010..with features of PHS or GCPS and oral-facial-digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly. These data support previously identified genotype-phenotype correlations and demonstrate a more variable ..
- DACH: genomic characterization, evaluation as a candidate for postaxial polydactyly type A2, and developmental expression pattern of the mouse homologueJ A Ayres
Craniofacial Development Section, NIAMS, National Institutes of Health, Bethesda, Maryland 20892 2745, USA
Genomics 77:18-26. 2001..Data suggest genetic linkage of the limb bud patterning defect postaxial polydactyly type A (designated PAP-A2, MIM 602085) to a 28-cM interval on chromosome 13 that includes DACH...
- De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine modelsE Elson
Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Hathersage Road, Manchester M13 0JH, UK
J Med Genet 39:804-6. 2002Acrocallosal syndrome (ACS) is characterised by postaxial polydactyly, hallux duplication, macrocephaly, and absence of the corpus callosum, usually with severe developmental delay...
- Ftm is a novel basal body protein of cilia involved in Shh signallingJeanette Vierkotten
Institut für Entwicklungs und Molekularbiologie der Tiere EMT, Heinrich Heine Universitat, 40225 Dusseldorf, Germany
Development 134:2569-77. 2007..Furthermore, the absence of Ftm in arthropods underlines the divergence between vertebrate and Drosophila Hh pathways...
- [A case-control study on genetic and environmental factors regarding polydactyly and syndactyly]Jia you Luo
Department of Maternal and Child Health, Central South University, Changsha 410008, China
Zhonghua Liu Xing Bing Xue Za Zhi 30:903-6. 2009To explore the genetic and environmental factors related to the development of polydactyly and syndactyly, and to provide evidence for prevention on birth defects.
- Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizuresG Mirzaa
Arabian Gulf University, College of Medicine and Medical Sciences, Manama, Bahrain
Neuropediatrics 35:353-9. 2004..We report five unrelated children with severe congenital MEG associated with polymicrogyria (PMG), postaxial polydactyly (POLY) and hydrocephalus (HYD).
- Fgf-dependent Etv4/5 activity is required for posterior restriction of Sonic Hedgehog and promoting outgrowth of the vertebrate limbJunhao Mao
Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA
Dev Cell 16:600-6. 2009..This study identifies another level of genetic interaction between the orthogonal axes during limb development...
- Direct interaction with Hoxd proteins reverses Gli3-repressor function to promote digit formation downstream of ShhYuting Chen
Laboratory of Pathology, Center for Cancer Research, NCI, NIH, Bethesda, MD 20892, USA
Development 131:2339-47. 2004..Enforced expression of any of several 5'Hoxd genes causes polydactyly of different distinct digit types with posterior transformations in a Gli3(+) background, whereas, in Gli3 null ..
- Misexpression of Sox9 in mouse limb bud mesenchyme induces polydactyly and rescues hypodactyly miceHaruhiko Akiyama
Department of Orthopaedics, Kyoto University, Kyoto 606 8507, Japan
Matrix Biol 26:224-33. 2007..The mutant mouse embryos exhibited polydactyly in limb buds in association with ectopic expression of Sox5 and Sox6 although markers for the different axes of ..
- Classification of the mirror hand-multiple hand spectrumM M Al Qattan
Division of Plastic Surgery, King Fahad National Guard Hospital and King Saud University, Riyadh, Saudi Arabia
J Hand Surg Br 23:534-6. 1998..A rare variant of mirror hand is described. The hand had eight fingers and the forearm contained an ulna and a hypoplastic radius. A classification of the mirror hand-multiple hand spectrum is offered and its embryology discussed...
- A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limbDominic Furniss
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK
Hum Mol Genet 17:2417-23. 2008A locus for triphalangeal thumb, variably associated with pre-axial polydactyly, was previously identified in the zone of polarizing activity regulatory sequence (ZRS), a long range limb-specific enhancer of the Sonic Hedgehog (SHH) gene ..
- Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromesKaren W Gripp
Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware 19803, USA
Am J Med Genet A 149:868-76. 2009..patients with macrocephaly and polymicrogyria, and additional anomalies seen in megalencephaly polymicrogyria-polydactyly hydrocephalus (MPPH) and macrocephaly capillary malformation (MCM) syndromes...
- What you can learn from one gene: GLI3L G Biesecker
National Human Genome Research Institute, 49 Convent Drive Room 4A80, Bethesda, MD 20892 4472, USA
J Med Genet 43:465-9. 2006..These topics are reviewed in turn, in the context of the clinical and biological data derived from patients with mutations in GLI3 and experimental work in model systems...
- Bapx1 homeobox gene gain-of-function mice show preaxial polydactyly and activated Shh signaling in the developing limbCarla Tribioli
Institute of Molecular Genetics, CNR, Pavia, Italy
Dev Dyn 235:2483-92. 2006..We show that transgenic mice overexpressing Bapx1 are affected by skeletal defects including hindlimb preaxial polydactyly and tibial hypoplasia...
- Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromesA David
Department of Paediatrics and Human Genetics, Nantes University Hospital, France
J Med Genet 36:599-603. 1999..reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect...
- Ciliary biology: understanding the cellular and genetic basis of human ciliopathiesMagdalena Cardenas-Rodriguez
Universidad de la Republica, Uruguay
Am J Med Genet C Semin Med Genet 151:263-80. 2009....
- Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twinsDominique Bremond-Gignac
Department of Ophthalmology, Robert Debre Hospital, Paris, France
Am J Med Genet A 134:422-5. 2005..5 years. The singleton patient showed typical WAGR syndrome and preaxial hallucal polydactyly. Molecular cytogenetic studies refined the identification of the extent of the deleted segments, which were not ..
- Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog ( Shh)Tomoko Sagai
Mammalian Genetics Laboratory, National Institute of Genetics, Yata 1111, Mishima, Shizuoka ken 411 8540, Japan
Mamm Genome 15:23-34. 2004..Absence of the conserved sequence in limbless reptiles and amphibians and a cis- trans test using the Hx and Shh KO alleles suggest that the sequence is a cis-acting regulator that controls the polarized expression of Shh...
- Two patients with monomelic ulnar duplication with mirror hand polydactyly: segmental Laurin-Sandrow syndromeJeffrey W Innis
Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, Michigan, USA
Am J Med Genet A 131:77-81. 2004....
- Developmental mechanisms underlying polydactyly in the mouse mutant DoublefootAlexandra P Crick
Department of Human Anatomy and Genetics, South Parks Road, Oxford OX1 3QX, UK
J Anat 202:21-6. 2003....
- Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new caseL Garavelli
Department of Pediatrics and Genetic Unit, S Maria Nuova Hospital, Reggio Emilia, Italy
Neuropediatrics 38:200-3. 2007..patients with a new MCA/MR syndrome characterized by severe congenital MEG with polymicrogyria (PMG), postaxial polydactyly (POLY) and hydrocephalus (HYD)...
- Associated anomalies in individuals with polydactylyE E Castilla
ECLAMC at Instituto Oswaldo Cruz, FIOCRUZ, Rio de Janeiro, Brazil
Am J Med Genet 80:459-65. 1998An epidemiological analysis of the association of polydactyly with other congenital anomalies was performed in 5,927 consecutively born polydactyly cases...
- The role of Alx-4 in the establishment of anteroposterior polarity during vertebrate limb developmentM Takahashi
The Salk Institute for Biological Studies, Gene Expression Laboratory, La Jolla, CA 92037 1099, USA
Development 125:4417-25. 1998..This deletion, which leads to a frame shift and a truncation of the Alx-4 protein, could cause the polydactyly phenotype observed in lstJ [corrected] mice...
- A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant miceR M Clark
Department of Developmental Biology, Stanford University, California 94305 5327, USA
Genomics 67:19-27. 2000b>Polydactyly is a common malformation of vertebrate limbs. In humans a major locus for nonsyndromic pre-axial polydactyly (PPD) has been mapped previously to 7q36...
- A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36H C Heus
Department of Clinical Genetics, Erasmus University Rotterdam, Rotterdam, 3000 DR, The Netherlands
Genomics 57:342-51. 1999Preaxial polydactyly is a congenital hand malformation that includes duplicated thumbs, various forms of triphalangeal thumbs, and duplications of the index finger. A locus for preaxial polydactyly has been mapped to a region of 1...
- Morphogenesis of Doublefoot (Dbf), a mouse mutant with polydactyly and craniofacial defectsC Hayes
Department of Human Anatomy, University of Oxford, UK
J Anat 193:81-91. 1998..The major phenotypic features involve the limb and craniofacial regions. There is polydactyly of all 4 limbs, with typically 6-8 digits per limb...
- A prenatally diagnosed case of sirenomelia with polydactyly and vestigial tailM A Guven
Department of Obstetrics and Gynecology, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey
Genet Couns 19:419-24. 2008We are presenting a prenatally diagnosed case with sirenomelia, vestigial tail and polydactyly. A 30-year-old woman at 16 weeks of gestation with dichorionic twins was admitted to the hospital...
- The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutationsU Radhakrishna
Division of Medical Genetics, University of Geneva Medical School, Geneva, Switzerland
Am J Hum Genet 65:645-55. 1999..GLI3 gene have been identified in Greig cepalopolysyndactyly, Pallister-Hall syndrome (PHS), and postaxial polydactyly type-A (PAP-A)...
- Sonic hedgehog is not required for polarising activity in the Doublefoot mutant mouse limb budC Hayes
Department of Human Anatomy, University of Oxford, UK
Development 125:351-7. 1998The mouse mutant Doublefoot (Dbf) shows preaxial polydactyly of all four limbs. We have analysed limb development in this mutant with respect to morphogenesis, gene expression patterns and ectopic polarising activity...
- How to make a zone of polarizing activity: insights into limb development via the abnormality preaxial polydactylyRobert E Hill
MRC Human Genetics Unit, Western General Hospital, Crewe Rd, Edinburgh, EH4 2XU, UK
Dev Growth Differ 49:439-48. 2007..Preaxial polydactyly (PPD) is a commonly occurring limb abnormality; investigating the genetic basis of this defect has provided ..
- GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localizationS H Shin
National Institutes of Health, National Human Genome Research Institute, Genetic Disease Research Branch, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 96:2880-4. 1999..factor can cause Greig cephalopolysyndactyly syndrome (GCPS), Pallister-Hall syndrome (PHS), and postaxial polydactyly type A (PAP-A)...
- Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactylyLaura A Lettice
Medical Research Council Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, United Kingdom
Proc Natl Acad Sci U S A 99:7548-53. 2002Preaxial polydactyly (PPD) is a common limb malformation in human. A number of polydactylous mouse mutants indicate that misexpression of Shh is a common requirement for generating extra digits...
- A duplicated zone of polarizing activity in polydactylous mouse mutantsH Masuya
Mammalian Genetics Laboratory, National Institute of Genetics, Mishima, Japan
Genes Dev 9:1645-53. 1995..All results indicate the presence of an additional ZPA at the anterior margin of limb buds in these mutants. Thus, it appears that multiple endogenous genes regulate the spatial localization of the ZPA in the developing mouse limb bud...
- Postaxial polydactyly in forelimbs of CRABP-II mutant miceD Fawcett
Division of Endocrinology, Hospital for Sick Children, Toronto, Canada
Development 121:671-9. 1995..This developmental abnormality implies a role for CRABP-II in normal patterning of the limb...
- Doublefoot: a new mouse mutant affecting development of limbs and headM F Lyon
Mammalian Genetics Unit, Medical Research Council, Didcot, Oxfordshire, UK
Genet Res 68:221-31. 1996..The gene maps close to the locus of Pax3, but crossovers between Dbf and Pax3 have been found, ruling out the possibility that a gain-of-function mutation in Pax3 might be involved...
- Mutation in GLI3 in postaxial polydactyly type AU Radhakrishna
Nat Genet 17:269-71. 1997
- Hydrocephalus manifestation in the genetic polydactyly/ arhinencephaly mouse (Pdn/Pdn)Ichiro Naruse
School of Health Science, Faculty of Medicine, Tottori University, Yonago, Tottori 683 8503, Japan
Congenit Anom (Kyoto) 42:27-31. 2002The genetic polydactyly/arhinencephaly mouse, Pdn/Pdn, exhibits severe polydactyly both in the fore- and hindlimbs, hydrocephalus, and agenesis of the olfactory bulbs, corpus callosum, and anterior commissure...
- Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysisStephanie Burns Wechsler
Department of Pediatrics, University of Michigan Health System, Ann Arbor, Michigan, USA
Clin Dysmorphol 13:63-9. 2004..We report the first female patient with this syndrome. The patient had tibial aplasia, mirror image preaxial polydactyly involving her feet, brachyphalangy, genital hypoplasia as well as facial dysmorphism including telecanthus, ..
- A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9Barbara Kloeckener-Gruissem
Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Switzerland
Am J Med Genet A 136:31-7. 2005..Another rare condition, ischiadic hypoplasia, renal dysgenesis, immunodeficiency, and polydactyly (IHRDIP, OMIM#243340), displays features that resemble those of the ICF syndrome...
- Meckel syndrome: genetics, perinatal findings, and differential diagnosisChih Ping Chen
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
Taiwan J Obstet Gynecol 46:9-14. 2007..encephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly. Genetic heterogeneity of MKS has been established by three reported MKS loci, i.e...
- The role of IFT80 in bone formationShuying Yang; Fiscal Year: 2013..Conditional ablation of IFT88 disrupts hedgehog signaling, with polydactyly and defects of endochondral bone formation...
- Functional Characterization of the Chlamydomonas CEP290/Nephrocystin-6 HomologueBranch Craige; Fiscal Year: 2010..been linked to defects in cilia: cystic kidney disease or nephronophthisis, retinal degeneration and blindness, polydactyly, defects in the central nervous system, liver fibrosis, and in the case of BBS,obesity...
- Reversible phosphorylation in Hedgehog signalingALAN ZHU; Fiscal Year: 2013..Misregulation of Hh signaling in humans results in various forms of birth defects, including holoprosencephaly, polydactyly, spina bifida, and heart and skeletal malformations...
- Joubert Syndrome Biennial Conference: Advancing Translational Ciliopathy ResearchDANIEL A DOHERTY; Fiscal Year: 2013..delay, ataxia, and variable features such as cystic renal disease, retinal dystrophy, hepatic fibrosis, and polydactyly. JS is a member of a new group of disorders called "ciliopathies" because all ten causal genes have been ..
- Jouberin and Nephrocystin in Joubert SyndromeJoseph G Gleeson; Fiscal Year: 2013..brain anomalies, mental retardation and ataxia, with frequent accompanying retinal blindness, renal failure, polydactyly and hepatic fibrosis...
- Treatment of a Complex Retinal Degenerative SyndromeVal C Sheffield; Fiscal Year: 2013..BBS is a pleiotropic disorder with the primary clinical features of pigmentary retinopathy, obesity, polydactyly, learning disabilities, renal abnormalities and hypogenitalism...
- The role of Twist family bHLH factors in limb morphogenesisAnthony B Firulli; Fiscal Year: 2013..Ectopic expression of either Hand1 or Hand2 within the limb results in preaxial polydactyly, a typical AP patterning defect...
- Complex Mechanisms in Bardet-Biedl Syndrome RetinopathyVal C Sheffield; Fiscal Year: 2013..BBS is a pleiotropic disorder with the primary clinical features of pigmentary retinopathy, obesity, polydactyly, learning disabilities, renal abnormalities and hypogenitalism...
- Characterization of regulatory elements leading to human limb malformationsGill Bejerano; Fiscal Year: 2013..malformations, the observed modular nature of enhancers, and the recent example of a non- syndromic preaxial polydactyly in humans that has been linked to a long distance enhancer of the Sonic Hedgehog (SHH) gene...
- GENETIC AND MOLECULAR CONTROLS OF VERTEBRATE LIMB DEVELOPMENTLee A Niswander; Fiscal Year: 2010..In Aim 1 we will explore the genetics of polydactyly (extra digit formation) and syndactyly (digit and soft-tissue fusion and/or digit loss) and determine the ..
- The role of mouse ARL13B in cell diversification during spinal cord developmentTAMARA J CASPARY; Fiscal Year: 2010..Obesity, situs inversus, infertility, diabetes, polydactyly, renal dysfunction, learning disabilities, epilepsy, deafness, anosmia and blindness are all seen in patients ..
- GENETIC DETERMINANTS IN KIDNEY AND URINARY TRACT DEFECTSFeng Chen; Fiscal Year: 2012..Luxate (Lx) and X-linked polydactyly (Xpl) are two classical mouse mutants with concurrent limb defects and a range of anomalies in the urinary ..
- Cilia Assembly and Transport in the Vertebrate RetinaBrian D Perkins; Fiscal Year: 2013..These multisyndromic disorders often present with retinal degeneration, kidney disease, mental retardation, and polydactyly. In the current application, we will utilize loss-of-function strategies in zebrafish to investigate the ..
- Clinical, Pathophysiologic and Therapeutic StudiesDavid L Rimoin; Fiscal Year: 2011..interest in their underlying pathogenic pathways, the program project team has chosen to study the short-rib polydactyly disorders and asphyxiating thoracic dysplasia, the brachyolmias, and autosomal recessive osteogenesis ..
- Cis-regulatory circuitry underlying Hedgehog mediated limb developmentSTEVEN ALEXANDER VOKES; Fiscal Year: 2013..Hh) pathway underlie a vast spectrum of human birth defects, including holoprosencephaly, cleft palate, and polydactyly. Hh signaling controls transcription by regulating the activity of Gli transcription factors...
- MOUSE MINUTES: A GENETIC STUDY OF RIBOSOMAL PROTEINSThomas Glaser; Fiscal Year: 2007..mouse mutation Bst (belly spot and tail) causes midventral spotting, vertebral anomalies (tail kinks), preaxial polydactyly, a reduction in retinal ganglion cell (RGC) number, optic nerve aplasia, colobomata, and subretinal ..
- MODELING DIAMOND-BLACKFAN ANEMIAThomas Glaser; Fiscal Year: 2006..birth defects, including growth retardation, craniofacial malformations, triphalangeal thumbs and preaxial polydactyly. In view of the universal cellular requirement for ribosomes, the tissue specificity of RPS19 phenotypes is ..
- MOLECULAR BASIS OF PREAXIAL POLYDACTYLY TYPE 2Anne Hing; Fiscal Year: 1999DESCRIPTION: The goals of this application are to clone the gene for preaxial polydactyly type 2 (PPD2), and to determine the role of PPD2 in limb development. Patients with PPD have a polydactyly of the thumbs, fingers or toes...
- CANDIDATE GENE STUDY OF INHERITED RETINAL DEGENERATIONSThaddeus Dryja; Fiscal Year: 2005..44 genes causing nonsyndromic RP, Usher syndrome (RP and deafness), or Bardet-Biedl syndrome (RP, obesity, polydactyly, short stature, et al.) Of these, 21 have been mapped by linkage studies...
- GENETIC & ENVIRONMENTAL DETERMINANTS OF CRANIOFACIAL DISBrendan Lee; Fiscal Year: 2005..the case for hydrolethalus and Meckel syndrome, which are characterized by CNS, craniofacial abnormalities, and polydactyly. They have been mapped to human chromosomes 11 and 17, respectively...
- Role of Gli-3 in Mouse DevelopmentPAULETTE ZAKI; Fiscal Year: 2004..in humans results in the disorder Greig cephalopolysyndactyly (GCPS), characterized by post-axial ad pre-axial polydactyly, syndactyly of hands and feet and craniofacial and eye abnormalities...
- Genetic Mechanisms of Vertebrate Caudal Limb Field SpecificationJEFFREY INNIS; Fiscal Year: 2007..Public Health: This work will have broad significance to our understanding of embryonic development as well as the basis for very common human birth defects involving caudal structures and limbs. [unreadable] [unreadable] [unreadable]..
- HOXA13 AMINO-TERMINAL FUNCTIONAL DOMAINSJEFFREY INNIS; Fiscal Year: 2004..We will inject these modified ES cells into blastocysts to create chimeric mice, obtain germline transmission of the mutant alleles, and characterize the limb phenotypes associated with these mutations. ..
- A PROGRAM FOR RAT GENE DISCOVERY AND MAPPINGVal Sheffield; Fiscal Year: 2001..Progress during the initial phase of this project resulted in unprecedented efficiency in gene discovery. ..
- Calorie Restriction Effects on Chromosomal AberrationsCHARLEEN MOORE; Fiscal Year: 2003..The results will be essential in identifying potential mechanisms by which CR acts in cancer prevention and delay of the aging process in long-lived species such as the rhesus monkey and humans. ..
- Genetic testing/hearing impairment in African AmericansNATHANIEL ROBIN; Fiscal Year: 2004..Furthermore, these results will determine the role of mutations in GJB2, GJB6, and GJA1 in HI in AA. Together, these results will lead to more efficient genetic testing for HI in this population. ..
- Zic3 and the Control of Body Pattern FormationSTEPHANIE WARE; Fiscal Year: 2005..Through a combination of supervised research, scientific interchange, and selected coursework within this environment, the candidate will obtain the training necessary to transition to an independent investigator. ..
- Small Molecule Inhibitors of CiliaWallace Marshall; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- Genetic analysis of congenital diaphragmatic herniaAnne Slavotinek; Fiscal Year: 2006..abstract_text> ..
- IMMUNE PROTECTION AGAINST MNU-INDUCTED DIGITAL DEFECTSMARY PRATER; Fiscal Year: 2006..This research under the guidance of Drs. Steven Holladay and Eric Wong at Virginia Tech...
- Identification and characterization of the ALS4 genePHILLIP CHANCE; Fiscal Year: 2006..Specific Aim (5) is to develop an animal model of ALS4 by introducing an identified disease-causing mutation into the germline of the mouse by employing either transgenesis or gene targeting. ..
- PATHOBIOCHEMISTRY OF PROTEOGLYCANS IN DEVELOPMENTScott Saunders; Fiscal Year: 2009..abstract_text> ..
- Molecular Genetics of GlaucomaVal C Sheffield; Fiscal Year: 2010..Candidate genes for mutations screening will be identified using a combination of expression, functional and positional information. ..
- Molecular basis of Joubert syndrome and related diseasesMelissa Parisi; Fiscal Year: 2007..abstract_text> ..
- Centriole Orientation During Left/Right Symmetry Breaking in the MouseWallace Marshall; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- MOLECULAR BASIS OF HEREDITARY NEURALGIC AMYOTROPHYPHILLIP CHANCE; Fiscal Year: 2008..Moreover, characterization of the HNA gene may have broader pathophysiological and therapeutic implications for more common idiopathic forms of brachial neuropathy. [unreadable] [unreadable]..