Nature genetics, 2012-04, Vol.44 (4), p.376-378
- TSURUSAKI, Yoshinori
- OKAMOTO, Nobuhiko
- FUKUSHIMA, Yoshimitsu
- HOMMA, Tomomi
- KATO, Mitsuhiro
- HIRAKI, Yoko
- YAMAGATA, Takanori
- YANO, Shoji
- MIZUNO, Seiji
- SAKAZUME, Satoru
- ISHII, Takuma
- NAGAI, Toshiro
- OHASHI, Hirofumi
- SHIINA, Masaaki
- OGATAL, Kazuhiro
- OHTA, Tohru
- NIIKAWA, Norio
- MIYATAKE, Satoko
- OKADA, Ippei
- MIZUGUCHI, Takeshi
- DOI, Hiroshi
- SAITSU, Hirotomo
- MIYAKE, Noriko
- KOSHO, Tomoki
- MATSUMOTO, Naomichi
- IMAI, Yoko
- HIBI-KO, Yumiko
- KANAME, Tadashi
- NARITOMI, Kenji
- KAWAME, Hiroshi
- WAKUI, Keiko
2012
Volltextzugriff (PDF)
Details
- Autor(en) / Beteiligte
- TSURUSAKI, Yoshinori
- OKAMOTO, Nobuhiko
- FUKUSHIMA, Yoshimitsu
- HOMMA, Tomomi
- KATO, Mitsuhiro
- HIRAKI, Yoko
- YAMAGATA, Takanori
- YANO, Shoji
- MIZUNO, Seiji
- SAKAZUME, Satoru
- ISHII, Takuma
- NAGAI, Toshiro
- OHASHI, Hirofumi
- SHIINA, Masaaki
- OGATAL, Kazuhiro
- OHTA, Tohru
- NIIKAWA, Norio
- MIYATAKE, Satoko
- OKADA, Ippei
- MIZUGUCHI, Takeshi
- DOI, Hiroshi
- SAITSU, Hirotomo
- MIYAKE, Noriko
- KOSHO, Tomoki
- MATSUMOTO, Naomichi
- IMAI, Yoko
- HIBI-KO, Yumiko
- KANAME, Tadashi
- NARITOMI, Kenji
- KAWAME, Hiroshi
- WAKUI, Keiko
- Titel
- Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
- Ist Teil von
- Nature genetics, 2012-04, Vol.44 (4), p.376-378
- Ort / Verlag
- New York, NY: Nature Publishing Group
- Erscheinungsjahr
- 2012
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- By exome sequencing, we found de novo SMARCB1 mutations in two of five individuals with typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly syndrome. As SMARCB1 encodes a subunit of the SWItch/Sucrose NonFermenting (SWI/SNF) complex, we screened 15 other genes encoding subunits of this complex in 23 individuals with CSS. Twenty affected individuals (87%) each had a germline mutation in one of six SWI/SNF subunit genes, including SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A and ARID1B.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1061-4036eISSN: 1546-1718DOI: 10.1038/ng.2219Titel-ID: cdi_proquest_miscellaneous_963491668
- Format
- –
- Schlagworte
- Abnormalities, Multiple - genetics, Biological and medical sciences, Cells, Cultured, Chromatin, Chromosomal Proteins, Non-Histone - genetics, Coffin-Siris syndrome, Diseases of the osteoarticular system, DNA Copy Number Variations - genetics, DNA Helicases - genetics, DNA-Binding Proteins - genetics, Exome, Face - abnormalities, Female, Fundamental and applied biological sciences. Psychology, Gene mutations, Genetic aspects, Genetics, Genetics of eukaryotes. Biological and molecular evolution, Hand Deformities, Congenital - genetics, Humans, Intellectual Disability - genetics, Male, Malformations and congenital and or hereditary diseases involving bones. Joint deformations, Medical sciences, Micrognathism - genetics, Mutation, Mutation, Missense, Neck - abnormalities, Nuclear Proteins - genetics, Physiological aspects, Proteins, Science, Sequence Analysis, DNA, SMARCB1 Protein, Transcription Factors - genetics