Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability-Reference-Cited by-同舟云学术

Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

Published:2015-12-23 Issue:8 Volume:24 Page:1223-1227
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Ansar Muhammad, ,Jan Abid,Santos-Cortez Regie Lyn P,Wang Xin,Suliman Muhammad,Acharya Anushree,Habib Rabia,Abbe Izoduwa,Ali Ghazanfar,Lee Kwanghyuk,Smith Joshua D,Nickerson Deborah A,Shendure Jay,Bamshad Michael J,Ahmad Wasim,Leal Suzanne M

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2015260.pdf

Reference20 articles.

1. Alazami AM, Al-Saif A, Al-Semari A et al: Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am J Hum Genet 2008; 83: 684–691.

2. Kayserili H, Uz E, Niessen C et al: ALX4 dysfunction disrupts craniofacial and epidermal development. Hum Mol Genet 2009; 18: 4357–4366.

3. Oeffner F, Fischer G, Happle R et al: IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. Am J Hum Genet 2009; 84: 459–467.

4. John P, Ali G, Chishti MS, Naqvi SM, Leal SM, Ahmad W : Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33-q27.3. Hum Genet 2006; 118: 665–667.

5. Wali A, John P, Gul A et al: A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31. Clin Genet 2006; 70: 233–239.

Cited by 18 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. Neurodevelopmental toxicity and molecular mechanism of environmental concentration of tetrabromobisphenol A bis (2- hydroxyethyl) ether exposure to sexually developing male SD rats;Chemosphere;2024-04

2. Integrins as a bridge between bacteria and cells: key targets for therapeutic wound healing;Burns & Trauma;2024-01-01

3. Exploring the role of ITGB6: fibrosis, cancer, and other diseases;Apoptosis;2023-12-21

4. Spray-dried microparticles of encapsulated gefitinib for slow-release localized treatment of periodontal disease;International Journal of Pharmaceutics;2023-07

5. Novel ITGB6 variants cause hypoplastic-hypomineralized amelogenesis imperfecta and taurodontism: characterization of tooth phenotype and review of literature;BDJ Open;2023-04-11