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Article: Mutational analysis of SHH and GLI3 in anorectal malformations
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TitleMutational analysis of SHH and GLI3 in anorectal malformations
 
AuthorsGarciaBarceló, MM4
Lui, VCH4
Miao, X4
So, MT4
Leon, TYY4
Yuan, ZW3
Li, L6
Liu, L2
Wang, B2
Sun, XB8
Huang, LM7
Tou, JF5
Ngan, ESW4
Cherny, SS1 4
Chan, KW9
Lee, KH9
Wang, W3
Wong, KKY4
Tam, PKH4
 
KeywordsAnorectal malformations
GLI3
SHH
 
Issue Date2008
 
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/102526943
 
CitationBirth Defects Research Part A - Clinical And Molecular Teratology, 2008, v. 82 n. 9, p. 644-648 [How to Cite?]
DOI: http://dx.doi.org/10.1002/bdra.20482
 
AbstractBACKGROUND: Anorectal malformations (congenital absence of the anal opening) are among the most common pediatric surgical problems and carry a significant chronic morbidity. METHODS: Direct sequencing was used to screen 88 anorectal malformations patients for mutations and polymorphisms in SHH and GLI3. These genes were chosen according to the phenotype presented by mutant mice and their expression patterns. RESULTS: We report on 10 GLI3 variants (IVS3+141C>G, T183A, IVS4+124T>C, IVS7+17G>A, IVS8+1 G>C, N503N, P941P, P998L, A1005A, A1039A) and four SHH mutation/variants (IVS1-49C>T, IVS2+111A>C, L214L, G290D). CONCLUSIONS: These variants are not over-represented in the healthy population and most are predicted to be benign. This study conveys the problematic assessment of the pathogenic role in disease of rare point mutations and variants. © 2008 Wiley-Liss, Inc.
 
ISSN1542-0752
2013 Impact Factor: 2.211
 
DOIhttp://dx.doi.org/10.1002/bdra.20482
 
ISI Accession Number IDWOS:000259713600006
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorGarciaBarceló, MM
 
dc.contributor.authorLui, VCH
 
dc.contributor.authorMiao, X
 
dc.contributor.authorSo, MT
 
dc.contributor.authorLeon, TYY
 
dc.contributor.authorYuan, ZW
 
dc.contributor.authorLi, L
 
dc.contributor.authorLiu, L
 
dc.contributor.authorWang, B
 
dc.contributor.authorSun, XB
 
dc.contributor.authorHuang, LM
 
dc.contributor.authorTou, JF
 
dc.contributor.authorNgan, ESW
 
dc.contributor.authorCherny, SS
 
dc.contributor.authorChan, KW
 
dc.contributor.authorLee, KH
 
dc.contributor.authorWang, W
 
dc.contributor.authorWong, KKY
 
dc.contributor.authorTam, PKH
 
dc.date.accessioned2010-05-31T03:55:28Z
 
dc.date.available2010-05-31T03:55:28Z
 
dc.date.issued2008
 
dc.description.abstractBACKGROUND: Anorectal malformations (congenital absence of the anal opening) are among the most common pediatric surgical problems and carry a significant chronic morbidity. METHODS: Direct sequencing was used to screen 88 anorectal malformations patients for mutations and polymorphisms in SHH and GLI3. These genes were chosen according to the phenotype presented by mutant mice and their expression patterns. RESULTS: We report on 10 GLI3 variants (IVS3+141C>G, T183A, IVS4+124T>C, IVS7+17G>A, IVS8+1 G>C, N503N, P941P, P998L, A1005A, A1039A) and four SHH mutation/variants (IVS1-49C>T, IVS2+111A>C, L214L, G290D). CONCLUSIONS: These variants are not over-represented in the healthy population and most are predicted to be benign. This study conveys the problematic assessment of the pathogenic role in disease of rare point mutations and variants. © 2008 Wiley-Liss, Inc.
 
dc.description.naturelink_to_subscribed_fulltext
 
dc.identifier.citationBirth Defects Research Part A - Clinical And Molecular Teratology, 2008, v. 82 n. 9, p. 644-648 [How to Cite?]
DOI: http://dx.doi.org/10.1002/bdra.20482
 
dc.identifier.doihttp://dx.doi.org/10.1002/bdra.20482
 
dc.identifier.eissn1542-0760
 
dc.identifier.epage648
 
dc.identifier.hkuros152819
 
dc.identifier.isiWOS:000259713600006
 
dc.identifier.issn1542-0752
2013 Impact Factor: 2.211
 
dc.identifier.issue9
 
dc.identifier.pmid18655123
 
dc.identifier.scopuseid_2-s2.0-52249090865
 
dc.identifier.spage644
 
dc.identifier.urihttp://hdl.handle.net/10722/59691
 
dc.identifier.volume82
 
dc.languageeng
 
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/102526943
 
dc.publisher.placeUnited States
 
dc.relation.ispartofBirth Defects Research Part A - Clinical and Molecular Teratology
 
dc.relation.referencesReferences in Scopus
 
dc.subjectAnorectal malformations
 
dc.subjectGLI3
 
dc.subjectSHH
 
dc.titleMutational analysis of SHH and GLI3 in anorectal malformations
 
dc.typeArticle
 
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<contributor.author>So, MT</contributor.author>
<contributor.author>Leon, TYY</contributor.author>
<contributor.author>Yuan, ZW</contributor.author>
<contributor.author>Li, L</contributor.author>
<contributor.author>Liu, L</contributor.author>
<contributor.author>Wang, B</contributor.author>
<contributor.author>Sun, XB</contributor.author>
<contributor.author>Huang, LM</contributor.author>
<contributor.author>Tou, JF</contributor.author>
<contributor.author>Ngan, ESW</contributor.author>
<contributor.author>Cherny, SS</contributor.author>
<contributor.author>Chan, KW</contributor.author>
<contributor.author>Lee, KH</contributor.author>
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<description.abstract>BACKGROUND: Anorectal malformations (congenital absence of the anal opening) are among the most common pediatric surgical problems and carry a significant chronic morbidity. METHODS: Direct sequencing was used to screen 88 anorectal malformations patients for mutations and polymorphisms in SHH and GLI3. These genes were chosen according to the phenotype presented by mutant mice and their expression patterns. RESULTS: We report on 10 GLI3 variants (IVS3+141C&gt;G, T183A, IVS4+124T&gt;C, IVS7+17G&gt;A, IVS8+1 G&gt;C, N503N, P941P, P998L, A1005A, A1039A) and four SHH mutation/variants (IVS1-49C&gt;T, IVS2+111A&gt;C, L214L, G290D). CONCLUSIONS: These variants are not over-represented in the healthy population and most are predicted to be benign. This study conveys the problematic assessment of the pathogenic role in disease of rare point mutations and variants. &#169; 2008 Wiley-Liss, Inc.</description.abstract>
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Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. Shenzhen Children's Hospital
  3. China Medical University Shenyang
  4. The University of Hong Kong
  5. Zhejiang Children's Hospital
  6. Capital Institute of Pediatrics
  7. Peking University
  8. Shandong University School of Medicine
  9. Chinese University of Hong Kong