Literature DB >> 25759628

Identification of a Novel 14q13.3 Deletion Involving the SLC25A21 Gene Associated with Familial Synpolydactyly.

K Meyertholen1, J B Ravnan2, R Matalon3.   

Abstract

Synpolydactyly is a relatively rare malformation. Recently, we came across a male infant with a familial synpolydactyly of the hands and feet. As most familial synpolydactyly syndromes have not been linked to any specific mutations, we felt further investigation was warranted. Using microarray and fluorescent in situ hybridization analysis, we identified a novel mutation of the SLC25A21 gene on chromosome 14.

Entities:  

Keywords:  2-Oxoadipate academia; Chromosome 14; MIPOL1; Microarray; PAX9; Polydactyly; SLC25A21; Syndactyly; Synpolydactyly

Year:  2012        PMID： 25759628      PMCID： PMC4329497          DOI： 10.1159/000339177

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


  13 in total

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Journal:  Birth Defects Orig Artic Ser       Date:  1978

Review 2.  Pax genes and organogenesis.

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Journal:  Bioessays       Date:  1997-09       Impact factor: 4.345

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Authors:  Y Muragaki; S Mundlos; J Upton; B R Olsen
Journal:  Science       Date:  1996-04-26       Impact factor: 47.728

5.  Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.

Authors:  Angela L Duker; Blake C Ballif; Erawati V Bawle; Richard E Person; Sangeetha Mahadevan; Sarah Alliman; Regina Thompson; Ryan Traylor; Bassem A Bejjani; Lisa G Shaffer; Jill A Rosenfeld; Allen N Lamb; Trilochan Sahoo
Journal:  Eur J Hum Genet       Date:  2010-06-30       Impact factor: 4.246

6.  Identification of the human mitochondrial oxodicarboxylate carrier. Bacterial expression, reconstitution, functional characterization, tissue distribution, and chromosomal location.

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Journal:  J Biol Chem       Date:  2000-11-16       Impact factor: 5.157

7.  Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report.

Authors:  Ryan N Traylor; Zheng Fan; Beth Hudson; Jill A Rosenfeld; Lisa G Shaffer; Beth S Torchia; Blake C Ballif
Journal:  Mol Cytogenet       Date:  2009-08-07       Impact factor: 2.009

8.  Identification of Cis-regulatory elements in the mouse Pax9/Nkx2-9 genomic region: implication for evolutionary conserved synteny.

Authors:  Fabio Santagati; Kuniya Abe; Volker Schmidt; Thomas Schmitt-John; Misao Suzuki; Ken-Ichi Yamamura; Kenji Imai
Journal:  Genetics       Date:  2003-09       Impact factor: 4.562

Review 9.  Limb malformations and the human HOX genes.

Authors:  Frances R Goodman
Journal:  Am J Med Genet       Date:  2002-10-15

10.  Conserved and non-conserved enhancers direct tissue specific transcription in ancient germ layer specific developmental control genes.

Authors:  Sumantra Chatterjee; Guillaume Bourque; Thomas Lufkin
Journal:  BMC Dev Biol       Date:  2011-10-20       Impact factor: 1.978
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  1 in total

1.  Developmental History Provides a Roadmap for the Emergence of Tumor Plasticity.

Authors:  Purushothama Rao Tata; Ryan D Chow; Srinivas Vinod Saladi; Aleksandra Tata; Arvind Konkimalla; Anne Bara; Daniel Montoro; Lida P Hariri; Angela R Shih; Mari Mino-Kenudson; Hongmei Mou; Shioko Kimura; Leif W Ellisen; Jayaraj Rajagopal
Journal:  Dev Cell       Date:  2018-03-26       Impact factor: 13.417
  1 in total

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