Results 121 to 130 of about 12,282 (232)

Novel Point Mutations of the ATP2A2 Gene in Two Chinese Families with Darier Disease [PDF]

, 2001
Yong Yang, Guanqun Li, Dingfang Bu, Xuejun Zhu   +3 more
openalex   +1 more source

Novel ATP2A2 mutations in a large sample of individuals with Darier disease [PDF]

, 2013
Elaine Green, Katherine Gordon‐Smith, Susan Burge, Detelina Grozeva, Colin S. Munro, S. Tavadia, Lisa Jones, Nicholoas Craddock   +7 more
openalex   +1 more source

A Case of Acrokeratosis Verruciformis Treated with Acitretin [PDF]

, 2009
Acrokeratosis Verruciformis is a rare autosomal dominant genodermatosis. Typically, the lesions are small, verrucous, flat papules on the dorsal aspects of the hands and feet, elbows and knees.
Ayten Ferahbaş, Ebru Güler, Olgun Kontaş, Serap Utaş   +3 more
core  

ATP2A2 Mutations in Darier's Disease: Variant Cutaneous Phenotypes Are Associated with Missense Mutations, But Neuropsychiatry Features Are Independent of Mutation Class [PDF]

, 1999
Víctor L. Ruiz‐Pérez, S. A. Carter, Eugene Healy, C. Todd, Jonathan L. Rees, P.M. Steijlen, A.J. Carmichael, Huckaby Lewis, Daniel Hohl, Peter Itin, Anders Vahlquist, Tommaso Gobello, Cinzia Mazzanti, R. Reggazini, G Nagy, C.S. Munro, T Strachan   +16 more
openalex   +1 more source

Zika virus non-structural protein NS2A mediated endoplasmic reticulum stress through interacting with Sarco/endoplasmic reticulum Ca2+-ATPase 2

Journal of Virology
Zika virus (ZIKV) infection of neuronal cells leads to endoplasmic reticulum (ER) stress, which is one of the key causes of neuronal damage. However, how ZIKV mediates ER stress has not been fully understood.
Shan Wang, Shanshan Tang, Yuxin Zhou, Qifei An, Mengxing Du, Xiujuan Yang, Peng Zou, Li Tang, Yufeng Yu   +8 more
doaj   +1 more source

Acral hemorrhagic Darier disease: A case report of a rare presentation and literature review

JAAD Case Reports, 2023
Emily Hong, BS, Ronghua Hu, MD, Alba Posligua, MD, Keith Choate, MD, PhD, John R. Durkin, MD, MBA   +4 more
doaj   +1 more source

Severe Darier's disease patient with mutation of ATP2A2.

Postepy dermatologii i alergologii, 2014
Li, Cheng-Rang, Zhang, Yu, Jia, Wei-Xue, Xiao, Xue-Min, Gu, Ning-Yan, Sheng, Nan, Mao, Qiu-Xia, Yao, Xu   +7 more
openaire   +3 more sources

Genodermatosen, die der Praktiker kennen muss [PDF]

, 2018
Zusammenfassung: Gesundheit oder Krankheit sind das Resultat von genetischer Konstellation und genetischer Veranlagung. Monogene Erkrankungen werden sehr stark durch die Mutation eines einzigen Gens phänotypisch geprägt.
Itin, P., Salgado, D.A.
core  

An ATP2A2 Missense Mutation in a Japanese Family with Darier Disease: A Case Report and Review of the Japanese Darier Disease Patients with ATP2A2 Mutations.

Journal of Nippon Medical School = Nippon Ika Daigaku zasshi, 2018
Darier disease (DD) is a rare autosomal dominant skin disorder due to mutations in the ATP2A2 gene, which encodes sarco/endoplasmic reticulum Ca2+ ATPase isoform 2 (SERCA2). The clinical manifestations of DD are characterized by warty papules and plaques in seborrheic areas, and association with neuropsychiatric abnormalities has also been reported in ...
Min, Li, Naoyuki, Higashi, Hajime, Nakano, Hidehisa, Saeki   +3 more
openaire   +1 more source

ATPase Ca++ transporting cardiac muscle slow twitch 2 (ATP2A2; SERCA2A); SMT3 suppressor of mif two 3 homolog 1 (SUMO1) [PDF]

, 2011

openalex   +1 more source