Literature DB >> 12438740

The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly.

J D Karkera1, S Izraeli, E Roessler, A Dutra, I Kirsch, M Muenke.   

Abstract

Holoprosencephaly (HPE) is the most common congenital malformation of the brain and face in humans. In this study we report the analysis of SIL (Sumacr;CL iumacr;nterrupting lumacr;ocus) as a candidate gene for HPE. Fluorescent in situ hybridization (FISH) analysis using a BAC 246e16 confirmed the assignment of SIL to 1p32. Computational analysis of SIL at the protein level revealed a 73% overall identity between the human and murine proteins. Denaturing high performance liquid chromatography (dHPLC) techniques were used to screen for mutations and these studies identified several common polymorphisms but no disease-associated mutations, suggesting that SIL is not a common factor in HPE pathogenesis in humans. Copyright 2002 S. Karger AG, Basel

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Year:  2002        PMID： 12438740     DOI： 10.1159/000064057

Source DB:  PubMed          Journal:  Cytogenet Genome Res        ISSN： 1424-8581            Impact factor:   1.636


  10 in total

1.  Transcription factor zinc finger and BTB domain 1 is essential for lymphocyte development.

Authors:  Divya Punwani; Karen Simon; Youngnim Choi; Amalia Dutra; Diana Gonzalez-Espinosa; Evgenia Pak; Martin Naradikian; Chang-Hwa Song; Jenny Zhang; David M Bodine; Jennifer M Puck
Journal:  J Immunol       Date:  2012-06-29       Impact factor: 5.422

2.  Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples.

Authors:  Divya Punwani; Diana Gonzalez-Espinosa; Anne Marie Comeau; Amalia Dutra; Evgenia Pak; Jennifer Puck
Journal:  Mol Genet Metab       Date:  2012-09-21       Impact factor: 4.797

3.  Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.

Authors:  Arun Kumar; Satish C Girimaji; Mahesh R Duvvari; Susan H Blanton
Journal:  Am J Hum Genet       Date:  2009-02       Impact factor: 11.025

4.  STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.

Authors:  Naseebullah Kakar; Jamil Ahmad; Deborah J Morris-Rosendahl; Janine Altmüller; Katrin Friedrich; Gotthold Barbi; Peter Nürnberg; Christian Kubisch; William B Dobyns; Guntram Borck
Journal:  Hum Genet       Date:  2014-09-14       Impact factor: 4.132

5.  Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.

Authors:  Jill A Rosenfeld; Blake C Ballif; Donna M Martin; Arthur S Aylsworth; Bassem A Bejjani; Beth S Torchia; Lisa G Shaffer
Journal:  Hum Genet       Date:  2010-04       Impact factor: 4.132

Review 6.  The molecular genetics of holoprosencephaly.

Authors:  Erich Roessler; Maximilian Muenke
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-02-15       Impact factor: 3.908

Review 7.  Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.

Authors:  Saqib Mahmood; Wasim Ahmad; Muhammad J Hassan
Journal:  Orphanet J Rare Dis       Date:  2011-06-13       Impact factor: 4.123

Review 8.  Holoprosencephaly.

Authors:  Christèle Dubourg; Claude Bendavid; Laurent Pasquier; Catherine Henry; Sylvie Odent; Véronique David
Journal:  Orphanet J Rare Dis       Date:  2007-02-02       Impact factor: 4.123

9.  Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.

Authors:  Charlotte Mouden; Marie de Tayrac; Christèle Dubourg; Sophie Rose; Wilfrid Carré; Houda Hamdi-Rozé; Marie-Claude Babron; Linda Akloul; Bénédicte Héron-Longe; Sylvie Odent; Valérie Dupé; Régis Giet; Véronique David
Journal:  PLoS One       Date:  2015-02-06       Impact factor: 3.240

10.  In silico prediction of a disease-associated STIL mutant and its affect on the recruitment of centromere protein J (CENPJ).

Authors:  Ambuj Kumar; Vidya Rajendran; Rao Sethumadhavan; Rituraj Purohit
Journal:  FEBS Open Bio       Date:  2012-09-25       Impact factor: 2.693
  10 in total

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