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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2011-4-8
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pubmed:abstractText |
Transforming growth factor-beta (TGF-?) type 1 receptor (also known as activin receptor-like kinase 5, ALK5) is expressed in palatal tissue during embryogenesis. Experimental studies in transgenic mice with a genetic deletion of Alk5 showed that TGF-? type 1 receptor is required for upper lip and midline fusion of the hard and soft palate. In humans, association of TGF-? type 1 receptor gene (TGFBR1) and the development of non-syndromic cleft lip with or without cleft palate (NSCL/P) had been observed in a multiethnic sample of Chinese, Philippine, Indian and Turkish families. In order to re-evaluate the relevance of these findings, we carried out a family-based association study among 218 NSCL/P families of Central European descent.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1872-8464
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pubmed:author |
pubmed-author:BirnbaumStefanieS,
pubmed-author:BraumannBertB,
pubmed-author:DunscheAntonA,
pubmed-author:HermsStefanS,
pubmed-author:HoffmannPerP,
pubmed-author:KnappMichaelM,
pubmed-author:KramerFranz-JosefFJ,
pubmed-author:LacavaAmalia DiazAD,
pubmed-author:LausterCarolaC,
pubmed-author:MangoldElisabethE,
pubmed-author:MartiniMarkusM,
pubmed-author:MendeMeinhardM,
pubmed-author:NöthenMarkus MMM,
pubmed-author:ReutterHeikoH,
pubmed-author:ScheerMartinM,
pubmed-author:SchiefkeFranziskaF,
pubmed-author:SchmidtGülG,
pubmed-author:de AssisNilma AlmeidaNA
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pubmed:issnType |
Electronic
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pubmed:volume |
73
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1334-8
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pubmed:meshHeading |
pubmed-meshheading:19586667-Abnormalities, Multiple,
pubmed-meshheading:19586667-Animals,
pubmed-meshheading:19586667-Animals, Newborn,
pubmed-meshheading:19586667-Cleft Lip,
pubmed-meshheading:19586667-Cleft Palate,
pubmed-meshheading:19586667-Cohort Studies,
pubmed-meshheading:19586667-Disease Models, Animal,
pubmed-meshheading:19586667-Europe,
pubmed-meshheading:19586667-Female,
pubmed-meshheading:19586667-Gene Expression Regulation, Developmental,
pubmed-meshheading:19586667-Genetic Predisposition to Disease,
pubmed-meshheading:19586667-Genetics, Population,
pubmed-meshheading:19586667-Humans,
pubmed-meshheading:19586667-Incidence,
pubmed-meshheading:19586667-Infant, Newborn,
pubmed-meshheading:19586667-Male,
pubmed-meshheading:19586667-Mice,
pubmed-meshheading:19586667-Mice, Transgenic,
pubmed-meshheading:19586667-Pedigree,
pubmed-meshheading:19586667-Protein-Serine-Threonine Kinases,
pubmed-meshheading:19586667-Receptors, Transforming Growth Factor beta,
pubmed-meshheading:19586667-Risk Assessment,
pubmed-meshheading:19586667-Species Specificity,
pubmed-meshheading:19586667-Syndrome
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pubmed:year |
2009
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pubmed:articleTitle |
Transforming growth factor-beta receptor type 1 (TGFBR1) is not associated with non-syndromic cleft lip with or without cleft palate in patients of Central European descent.
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pubmed:affiliation |
Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, D-53111 Bonn, Germany. reutter@uni-bonn.de
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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