Genomes and Genes
Karl Heinz Grzeschik
Affiliation: Philipps University
- Human GLI3 intragenic conserved non-coding sequences are tissue-specific enhancersAmir Ali Abbasi
Institute of Human Genetics, Philipps University, Marburg, Germany
PLoS ONE 2:e366. 2007....
- Involvement of GTA protein NC2beta in neuroblastoma pathogenesis suggests that it physiologically participates in the regulation of cell proliferationCinzia Di Pietro
Dipartimento di Scienze Biomediche, Sezione di Biologia generale, Biologia Cellulare, Genetica Molecolare G Sichel, Unità di Biologia Genomica e dei Sistemi Complessi, Genetica, Bioinformatica, Universita di Catania, 95123 Catania, Italy
Mol Cancer 7:52. 2008..This complexity contrasts with the simple mechanical role that these proteins are believed to perform and suggests a still uncharacterized participation to important biological functions, such as the control of cell proliferation...
- Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequencesSajid Malik
Zentrum für Humangenetik, Philipps Universitat Marburg, Bahnhofstr, 7, 35037 Marburg, Germany
BMC Med Genet 8:78. 2007..It has been suggested that expansions < or = 6 alanine residues go without medical attention, as no such expansion has ever been reported with the SPD1 phenotype...
- Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasiaKarl Heinz Grzeschik
Department of Human Genetics, University of Marburg, Bahnhofstr 7, 35033 Marburg, Germany
Nat Genet 39:833-5. 2007..The findings implicate FDH as a developmental disorder caused by a deficiency in PORCN...
- Ultraconserved non-coding sequence element controls a subset of spatiotemporal GLI3 expressionZissis Paparidis
Institute of Human Genetics, Philipps University, Bahnhofstrasse 7, D35037 Marburg, Germany
Dev Growth Differ 49:543-53. 2007..Time, location, and quantity of reporter gene expression are congruent with part of the pattern previously reported for endogenous GLI3 transcription...
- Donor dominance cures CHILD nevusArne König
Department of Dermatology, Philipp University, Deutschhausstrasse 9, Marburg, Germany
Dermatology 220:340-5. 2010..Patients suffer from an inflammatory nevus that covers large areas, predominantly of one side of the body, with a sharp midline demarcation. Treatment of CHILD nevus is notoriously difficult...
- A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani originSajid Malik
Zentrum für Humangenetik, Philipps Universitat Marburg, Marburg, Germany
Am J Med Genet A 126:61-7. 2004..We show that the phenotype in our family is not linked to chromosomal regions 2q34-q36, 2q31, and 6q22-q23 encompassing loci for syndactyly types I, II, and III...
- Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31Sajid Malik
Zentrum für Humangenetik, Philipps Universitat Marburg, Bahnhofstr 7, 35037 Marburg, Germany
Eur J Hum Genet 13:1268-74. 2005..20 Mb. Since the same phenotype appears not to be linked to this locus in a German family, we predict genetic heterogeneity in zygodactyly and propose to designate the 3p21.31 locus as ZD1 (i.e., zygodactyly 1)...
- Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2Dorothea Bornholdt
Institut fuer Humangenetik, Philipps Universitaet, Marburg, Germany
Hum Mutat 34:587-94. 2013....
- Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3Sajid Malik
Zentrum für Humangenetik, Philipps Universitat Marburg, Bahnhofstr 7, Marburg, Germany
Am J Med Genet A 134:404-8. 2005....
- Human intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb developmentAmir A Abbasi
Department of Human Genetics, Philipps Universitat Marburg, 35037 Marburg, Germany
BMC Dev Biol 10:44. 2010..From these studies it has emerged, that Gli3 expression must be subject to a tight spatiotemporal regulation. However, the genetic mechanisms and the cis-acting elements controlling the expression of Gli3 remained largely unknown...
- CHILD syndrome in 3 generations: the importance of mild or minimal skin lesionsMario Bittar
Department of Dermatology and Center of Human Genetics, University of Marburg, Marburg, Germany
Arch Dermatol 142:348-51. 2006..We present here a family with mild features of CHILD syndrome in 3 generations. Molecular analysis was used to confirm the diagnosis...
- Human limb malformations; an approach to the molecular basis of developmentKarl Heinz Grzeschik
Institut fuer Humangenetik der Philipps Universitaet, Marburg, Deutschland
Int J Dev Biol 46:983-91. 2002....
- An insight into the phylogenetic history of HOX linked gene families in vertebratesAmir Ali Abbasi
Institute of Human Genetics, Philipps University, Bahnhofstrasse 7 D35037 Marburg, Germany
BMC Evol Biol 7:239. 2007..This would imply that the constituent genes including the HOX clusters reflect the architecture of a single ancestral block (before vertebrate origin) where all of these genes were linked in a single copy...
- Spectrum of the acrocallosal syndromeRainer Koenig
Department of Human Genetics, Johann Wolfgang Goethe University, Frankfurt, Germany
Am J Med Genet 108:7-11. 2002..Cranial cysts were also seen in 10/34 published cases of ACS. Thus, intracerebral cysts are a common finding in ACS and may serve in differentiating ACS from Greig cephalopolysyndactyly syndrome...
- IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress responseFrank Oeffner
Department of Human Genetics, Philipps Universitat, Marburg 35037, Germany
Am J Hum Genet 84:459-67. 2009..Our findings indicate that the phenotypic expression of IFAP syndrome is quantitatively related to a reduced function of a key cellular regulatory system affecting cholesterol homeostasis and ability to cope with ER stress...
- Tandem pore domain K(+)-channel TASK-3 (KCNK9) and idiopathic absence epilepsiesColette Kananura
Institute of Human Genetics, University Hospital, Rheinische Friedrich Wilhelms University of Bonn, Bonn, Germany
Am J Med Genet 114:227-9. 2002..Accordingly, genetic variation of the TASK-3 coding region does not play a major role in the etiology of idiopathic absence epilepsies...
- Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2-q22.1 in an inbred Pakistani familySajid Malik
Zentrum für Humangenetik, Philipps Universitat Marburg, Bahnhofstr 7, 35037, Marburg, Germany
Hum Genet 123:197-205. 2008..Our study provides an evidence of a second locus for lymphedema type I. The discovery of the underlying gene could be helpful for the understanding of this heterogeneous hereditary condition...
- Reduced penetrance in a family with X-linked dominant chondrodysplasia punctataYorck Hellenbroich
Institut fur Humangenetik, Universitat zu Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
Eur J Med Genet 50:392-8. 2007..Surprisingly, the mother of our fetus carries the same mutation without having any signs of CDPX2. X-inactivation studies did not reveal any evidence of skewing neither in the mother nor in the fetus...
- Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor geneAicha Salhi
Department of Dermatology, University of Algiers, Algiers, Algeria
Cancer Res 64:5113-7. 2004..Hence, mutations of the tumor suppressor gene CYLD at 16q12-q13 may give rise to familial TE indistinguishable from the phenotype assigned to 9p21...
- An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivationGunnar Houge
Eur J Hum Genet 16:1027-8. 2008
- Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2Katarina Lehmann
Institut fur Medizinische Genetik, Humboldt Universitat, Charite, Augustenburger Platz 1, 13353 Berlin, Germany
Proc Natl Acad Sci U S A 100:12277-82. 2003..These findings imply that both mutations identified in human BMPR1B affect cartilage formation in a dominant-negative manner...
- Human chromosome 7: DNA sequence and biologyStephen W Scherer
Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8
Science 300:767-72. 2003..This approach enabled the discovery of candidate genes for developmental diseases including autism...
- A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvementArne König
Department of Dermatology, Philipp University, Deutchhausstrasse 9, D 35033 Marburg, Germany
J Am Acad Dermatol 46:594-6. 2002..Apparently, the effect of random X-inactivation is responsible for different patterns of cutaneous involvement in female carriers of NSDHL mutations...
- Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysisAnnette Kolb-Mäurer
Department of Dermatology, University of Wurzburg, Josef Schneider Strasse 2, Wurzburg, Germany
Acta Derm Venereol 88:47-51. 2008..We suggest that plasma sterol analysis is a reliable method of establishing the diagnosis of Conradi-Hünermann-Happle syndrome, even in patients with less striking phenotypical changes beyond infancy...
- The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndromeHans Christoph Duba
Institut fur Medizinische Biologie und Humangenetik der Universitat Innsbruck, A 6020 Innsbruck, Austria
Eur J Hum Genet 10:351-61. 2002....