Results 81 to 90 of about 4,625 (171)

Novel Compound Heterozygous Variants in <i>CDH3</i> Cause Congenital Hypotrichosis with Juvenile Macular Dystrophy: A Case Report with Longitudinal Imaging and Functional Validation. [PDF]

Case Rep Ophthalmol
Lin Y, Yu P, Cui S, Xiong S, Zhou Y, Chen Y, Lin J.   +6 more
europepmc   +1 more source

ADAM17 variant causes hair loss via ubiquitin ligase TRIM47–mediated degradation

JCI Insight
Hypotrichosis is a genetic disorder characterized by a diffuse and progressive loss of scalp and/or body hair. Nonetheless, the causative genes for several affected individuals remain elusive, and the underlying mechanisms have yet to be fully elucidated.
Xiaoxiao Wang, Chaolan Pan, Luyao Zheng, Jianbo Wang, Quan Zou, Peiyi Sun, Kaili Zhou, Anqi Zhao, Qiaoyu Cao, Wei He, Yumeng Wang, Ruhong Cheng, Zhirong Yao, Si Zhang, Hui Zhang, Ming Li   +15 more
doaj   +1 more source

Case Report: Compound heterozygous variants in <i>LSS</i> and <i>TSPEAR</i> genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14. [PDF]

Front Med (Lausanne)
Xu Y, Yang D, Xie Y, Liu Q, Lv S, Du M, Wang L.   +6 more
europepmc   +1 more source

Circulating immune complexes in dogs with Leishmania infantum infection in a non-endemic country. [PDF]

PLoS One
Kaempfle M, Hartmann K, Zablotski Y, Dorsch R, Parody N, Carnés J, Bergmann M.   +6 more
europepmc   +1 more source

Proteolytic dysregulation in the skin: insight from rare monogenic skin diseases. [PDF]

Cell Tissue Res
Li Z, Wang S, Blaydon DC, Kelsell DP.
europepmc   +1 more source

A novel pathogenic mutation in TSPEAR associated with sensorineural hearing loss: a case report and review of the literature. [PDF]

J Med Case Rep
Ahmadkhani A, Taherifard E, Zoghi S, Jafari Khamirani H, Ahmadkhani M, Dastgheib SA.   +5 more
europepmc   +1 more source

Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population. [PDF]

Skin Health Dis
Somani V, Somani A, Annabathula A.
europepmc   +1 more source

Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis. [PDF]

Front Med (Lausanne)
Xie Y, Luo S, Yang Y, Zou X, Lv S, Du M, Xu Y, Song X, Qi C, Li N, Yang D.   +10 more
europepmc   +1 more source

Desmosomal-Type Acantholysis-A New Histologic Pattern Related to Mutations of Genes for Desmosomal Proteins. [PDF]

Dermatopathology (Basel)
Metze D, Süßmuth K, Metze C, Oji V, Traupe H.   +4 more
europepmc   +1 more source

Clinical Spectrum and Genetic Variability in Ectodermal Dysplasia-Skin Fragility Syndrome. [PDF]

Indian Dermatol Online J
Gupta M, Sharma A, Chatterjee D, Vinay K.   +3 more
europepmc   +1 more source