IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response-Reference-Cited by-同舟云学术

IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

Published:2009-04 Issue:4 Volume:84 Page:459-467
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Oeffner Frank,Fischer Gayle,Happle Rudolf,König Arne,Betz Regina C.,Bornholdt Dorothea,Neidel Ulrike,del Carmen Boente María,Redler Silke,Romero-Gomez Javier,Salhi Aïcha,Vera-Casaño Ángel,Weirich Christian,Grzeschik Karl-Heinz

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference28 articles.

1. Three cases of “ichthyosis follicularis” associated with baldness;Macleod;Br. J. Dermatol.,1909

2. Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: A severe manifestation of IFAP syndrome?;Boente;Eur. J. Dermatol.,2000

3. Ichthyosis follicularis with alopecia and photophobia in a mother and daughter;Sato-Matsumura;Br. J. Dermatol.,2000

4. Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients;Cambiaghi;J. Am. Acad. Dermatol.,2002

5. Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin;Khandpur;J. Eur. Acad. Dermatol. Venereol.,2005

Cited by 122 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. Integrated multi-omic analysis and experiment reveals the role of endoplasmic reticulum stress in lung adenocarcinoma;BMC Medical Genomics;2024-01-02

2. Emerging Landscape of Osteogenesis Imperfecta Pathogenesis and Therapeutic Approaches;ACS Pharmacology & Translational Science;2024-01-02

3. A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome;American Journal of Medical Genetics Part A;2023-12-22

4. Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report;Clinical, Cosmetic and Investigational Dermatology;2023-12

5. Mice heterozygous for an osteogenesis imperfecta-linked MBTPS2 variant display a compromised subchondral osteocyte lacunocanalicular network associated with abnormal articular cartilage;Bone;2023-12