Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical Features-Reference-Cited by-同舟云学术

Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical Features

Published:2001-12 Issue:6 Volume:69 Page:1178-1185
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Yamada Kenichiro,Yamada Yasukazu,Nomura Noriko,Miura Kiyokuni,Wakako Rie,Hayakawa Chiemi,Matsumoto Akiko,Kumagai Toshiyuki,Yoshimura Ikuko,Miyazaki Shuji,Kato Kanefusa,Sonta Shin-ichi,Ono Hiroshi,Yamanaka Tsutomu,Nagaya Masahiro,Wakamatsu Nobuaki

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference27 articles.

1. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient;Angrist;Nat Genet,1996

2. A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome);Brooks;J Med Genet,1999

3. Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease;Cacheux;Hum Mol Genet,2001

4. The two-handed E box binding zinc finger protein SIP1 downregulates E-cadherin and induces invasion;Comijn;Mol Cell,2001

5. The CpG dinucleotide and human genetic disease;Cooper;Hum Genet,1988

Cited by 85 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Novel STAMBP mutations in a Chinese girl with rare symptoms of microcephaly-capillary malformation syndrome and Mowat-Wilson syndrome;Heliyon;2023-12

2. Zeb2 DNA-Binding Sites in Neuroprogenitor Cells Reveal Autoregulation and Affirm Neurodevelopmental Defects, Including in Mowat-Wilson Syndrome;Genes;2023-03-02

3. ZEB2 controls kidney stromal progenitor differentiation and inhibits abnormal myofibroblast expansion and kidney fibrosis;JCI Insight;2023-01-10

4. Mowat-Wilson syndrome presenting with Shone’s complex cardiac anomaly;BMJ Case Reports;2022-02

5. ZEB2, the Mowat-Wilson Syndrome Transcription Factor: Confirmations, Novel Functions, and Continuing Surprises;Genes;2021-07-03