Associated Papers
Human germline biallelic loss-of-function OSMR variants cause severe allergic disease.
Sharma M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Thyroid Malignancy and Cutaneous Lichen Amyloidosis: Key Points Amid RET Pathogenic Variants in Medullary Thyroid Cancer/Multiple Endocrine Neoplasia Type 2 (MEN2).
Stanescu LS et al.
International Journal of Molecular Sciences, 2024
Generation of a human embryonic stem cell line (SMUDHe010-A-82) carrying a homozygous c.1538G > A (p.G513D) mutation in the OSMR gene by CRISPR/Cas9-mediated homologous recombination.
Zheng W et al.
Stem Cell Research, 2022
LC-MS/MS and immuno-electron subtyping combined with genetics show that OSMR mutations cause amyloid deposition of keratins 5/14 in familial primary localized cutaneous amyloidosis.
Bourguiba R et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022
Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.
Yang D et al.
Frontiers in Genetics, 2021
Clinical and genetic features of Chinese patients with lichen and macular primary localized cutaneous amyloidosis.
Lu P et al.
Clinical and Experimental Dermatology, 2019
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
The RET C611Y mutation causes MEN 2A and associated cutaneous
Qi XP et al.
Endocrine Connections, 2018
[Identification of pathogenic mutations in two Chinese families affected with primary localized cutaneous amyloidosis].
Mao B et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
The Clinical Spectrum of Multiple Endocrine Neoplasia Type 2A with Cutaneous Lichen Amyloidosis in Ethnic Han Chinese.
Qi XP et al.
Cancer Investigation, 2018
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.
Qiu YL et al.
Hepatology (baltimore, Md.), 2017
MEN 2A-related cutaneous lichen amyloidosis: report of three kindred and systematic literature review of clinical, biochemical and molecular characteristics.
Scapineli JO et al.
Familial Cancer, 2016
Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR.
Wali A et al.
Acta Dermato-venereologica, 2015
RET mutation p.S891A in a Chinese family with familial medullary thyroid carcinoma and associated cutaneous amyloidosis binding OSMR variant p.G513D.
Qi XP et al.
Oncotarget, 2015