Research Topics
| JEFFREY INNISSummaryAffiliation: University of Michigan Country: USA Publications
Research Grants
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Detail Information
Publications
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....- Limb development: molecular dysmorphology is at hand!J W Innis
University of Michigan, Department of Human Genetics, Ann Arbor 48109 0618, USA
Clin Genet 53:337-48. 1998..With this knowledge, clinical geneticists can now begin to consider molecular mechanisms and pathways when investigating patients with limb malformation syndromes... - Integrative biology and the developing limb budJeffrey W Innis
Department of Human Genetics and Pediatrics, University of Michigan Medical School, Ann Arbor 48109 0618, USA
Evol Dev 4:378-89. 2002.... - A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndromeJeffrey W Innis
Departments of Human Genetics and Pediatrics, University of Michigan, Ann Arbor, MI, USA
Hum Mutat 19:573-4. 2002..The missense mutation, which alters a key residue in the recognition helix of the homeodomain, is likely to perturb HOXA13's DNA-binding properties, resulting in both a loss and a specific gain of function... - Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse modelJeffrey W Innis
Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109, USA
Hum Mol Genet 13:2841-51. 2004..In vitro translation efficiency of the HOXA13(ALA28) protein was normal. Thus, loss of function is secondary to a reduction in the in vivo abundance of the expanded protein likely due to degradation... - eSAGE: managing and analysing data generated with serial analysis of gene expression (SAGE)E H Margulies
Departments of Human Genetics Pediatrics and Communicable Diseases, University of Michigan Medical School Ann Arbor, Michigan 48109 0618, USA
Bioinformatics 16:650-1. 2000..SUMMARY: eSAGE is a comprehensive set of software tools for managing and analysing data generated with Serial Analysis of Gene Expression (SAGE)... 
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes diseaseS L Dagenais
Departments of Pediatrics and Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA
Am J Hum Genet 69:420-7. 2001..The data from the present report support the concepts that (1) OHS results from lower levels of functional ATP7A and (2) ATP7A does not require the dileucine motif to function in copper efflux...- Mutation of HOXA13 in hand-foot-genital syndromeD P Mortlock
Dept of Human Genetics, Univ of Michigan Medical School, Ann Arbor 48109 0618, USA
Nat Genet 15:179-80. 1997..The mutation converts a highly conserved tryptophan residue in the homeodomain to a stop codon, which truncates 20 amino acids from the protein and likely eliminates or greatly reduces the ability of the protein to bind to DNA... - Altered Hox expression and increased cell death distinguish Hypodactyly from Hoxa13 null miceL C Post
Department of Human Genetics, University of Michigan, Ann Arbor 48109 0618, USA
Int J Dev Biol 43:287-94. 1999..In addition, at least one target of HOXA13 may be Hoxa11... - Severe limb defects in Hypodactyly mice result from the expression of a novel, mutant HOXA13 proteinL C Post
Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, 48109, USA
Dev Biol 217:290-300. 2000..We propose that the expression of HOXA13(Hd) plays a role in the profound failure of digit formation in Hoxa13(Hd/Hd) mice and explains the morphologic differences between these two Hoxa13 alleles... - The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formationD P Mortlock
Department of Human Genetics, University of Michigan Medical School, Ann Arbor 48109 0618, USA
Nat Genet 13:284-9. 1996..Our results confirm the critical role of AbdB-like Hox genes in the development of the autopod, and add to the spectrum of mutations involving triplet repeats... - A comparative molecular analysis of developing mouse forelimbs and hindlimbs using serial analysis of gene expression (SAGE)E H Margulies
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA
Genome Res 11:1686-98. 2001..SAGE data are all available at GEO (http://www.ncbi.nlm.nih.gov/geo/) under accession nos. GSM55 and GSM56, which correspond to the forelimb and hindlimb raw SAGE data.].. - Identification and prevention of a GC content bias in SAGE librariesE H Margulies
Department of Human Genetics, University of Michigan Medical School and Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA
Nucleic Acids Res 29:E60-0. 2001..In addition to keeping any solution of free DiTags on ice, an analysis of the GC content should be performed before sequencing large numbers of SAGE Tags to be confident that SAGE libraries are free from experimental bias... - Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structuresL C Post
Departments of Human Genetics and Pediatrics, University of Michigan, Ann Arbor, Michigan 48109 0618, USA
Biol Reprod 61:1402-8. 1999..Our results indicate that infertility in Hypodactyly mutants is related to hypoplasia of the vaginal cavity and cervix in females and deficiency of the os penis in males... - TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndromeDeborah A McDermott
Department of Medicine, Weill Medical College of Cornell University, New York, New York 10021, USA
Pediatr Res 58:981-6. 2005..Accordingly, TBX5 genotyping has high sensitivity and specificity for HOS if stringent diagnostic criteria are used in assigning the clinical diagnosis... - A group 13 homeodomain is neither necessary nor sufficient for posterior prevalence in the mouse limbMelissa E Williams
Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA
Dev Biol 297:493-507. 2006.... - Description and genetic mapping of Polypodia: an X-linked dominant mouse mutant with ectopic caudal limbs and other malformationsJessica A Lehoczky
Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109-0618, USA
Mamm Genome 17:903-13. 2006..We hypothesize that Ppd affects very early steps in the formation of caudal structures including limb and appendage number. The existence of noncaudal anomalies implies the involvement of Ppd in a broad array of cell fate decisions... - Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndromeBoris Utsch
Children Hospital, University of Erlangen Nuremberg, Erlangen, Germany
Am J Med Genet A 143:3161-8. 2007.... - BAC transgenic analysis reveals enhancers sufficient for Hoxa13 and neighborhood gene expression in mouse embryonic distal limbs and genital budJessica A Lehoczky
Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109 5618, USA
Evol Dev 10:421-32. 2008.... - Candidate downstream regulated genes of HOX group 13 transcription factors with and without monomeric DNA binding capabilityThomas M Williams
Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109 0618, USA
Dev Biol 279:462-80. 2005..Our results suggest that HOX protein-protein interactions without direct HOX DNA-binding may play a larger role in HOX transcriptional regulation than generally assumed, and DNA-binding appears critical for repression... - Range of HOX/TALE superclass associations and protein domain requirements for HOXA13:MEIS interactionThomas M Williams
Department of Human Genetics, University of Michigan, Med Sci II 4811, Ann Arbor, MI 48109 0618, USA
Dev Biol 277:457-71. 2005.... - Conserved expression domains for genes upstream and within the HoxA and HoxD clusters suggests a long-range enhancer existed before cluster duplicationJessica A Lehoczky
Department of Human Genetics, Division of Genetics, University of Michigan, Ann Arbor, MI 48109, USA
Evol Dev 6:423-30. 2004..The Evx1- and Evx2-like central nervous system expression observed in these mice suggests that the long-range regulatory element(s) for the Hox cluster existed before the cluster duplication... - Possible third case of Lin-Gettig syndromePeter Hedera
Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, Michigan, USA
Am J Med Genet 110:380-3. 2002..The existence of an unrelated patient with Lin-Gettig syndrome supports that this is a separate and distinct clinical entity... - 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..Our father/daughter pair is the second family reported, supporting a dominant mode of inheritance. Moreover, the very mild phenotype in the father suggests the need for very careful attention to parental examination in such cases... - Priming the search for HOX mutationsJeffrey W Innis
Teratology 65:47-9. 2002 - A mouse transgene drives embryonic dorsal posterior commissure expressionJessica A Lehoczky
Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109 0618, USA
Transgenic Res 16:823-8. 2007..The ability of this BAC to direct posterior commissure expression makes it worthy of further study as a valuable tool in transgenic/targeting experiments... - Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical featuresPeter Hedera
Department of Pediatrics, Division of Genetics, University of Michigan, 1500 E Medical Center Drive, Ann Arbor, MI 48109 0618, USA
Am J Med Genet A 122:257-60. 2003..The presence of these novel findings suggests possible overlap with other syndromes, such as orofaciodigital and Malpuech syndromes... - Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversalCatherine E Keegan
Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan 48109-0618, USA
Am J Med Genet A 125:293-8. 2004.... 
A genomic approach to the identification and characterization of HOXA13 functional binding elementsColleen D McCabe
Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA
Nucleic Acids Res 33:6782-94. 2005..No change in the general histone acetylation state was observed. Our results support models in which occupation of multiple HOX binding sites is associated with highly activated genes...- Group 13 HOX proteins interact with the MH2 domain of R-Smads and modulate Smad transcriptional activation functions independent of HOX DNA-binding capabilityThomas M Williams
Department of Human Genetics, University of Michigan Ann Arbor, MI, USA
Nucleic Acids Res 33:4475-84. 2005.... - Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twinsVinod K Misra
Department of Pediatrics and Communicable Diseases, The University of Michigan, Ann Arbor, MI 48109, USA
Mol Genet Metab 86:200-5. 2005.... - Expanded HOXA13 polyalanine tracts in a monotremeJessica A Lehoczky
Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109 5618, USA
Evol Dev 10:433-8. 2008..The data support the conclusion that the emergence of expanded polyalanine tracts in proteins occurred very early in the stem lineage that gave rise to mammals, between 162 and 315 Ma...
Research Grants
- 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. ..
- 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. ..