Results 81 to 90 of about 2,278 (176)

Molecular structure and developmental expression of zebrafish atp2a genes [PDF]

[[abstract]]We isolated two atp2a genes, atp2a1 and atp2a2a, from embryonic zebrafish. Amino acid sequences deduced from zebrafish atp2a genes are aligned with orthologue proteins from other species, the results showed that they share high percentage of ...
A. Magyar, A. Odermatt, A. Sakuntabhai, A.D. Langenbacher, A.M. Ebert, A.M. Gordon, A.M. Gunteski-Hamblin, B.D. Olson, C. Kimmel, C.J. Brandl, C.W. Pai, D. Varga-Szabo, D.F. Dai, D.H. MacLennan, D.H. MacLennan, D.K. Hsu, E. Loukianov, E. Zádor, H. Hirata, H.C. Peng, I. Machuca, I.A. Brody, J. Lo, J. Lytton, J.E. Kontaraki, J.M. Autry, K. Mikoshiba, K.B. Andersson, K.D. Wu, L. Maves, M. Fill, M. Periasamy, M. Schleef, M.J. Berridge, M.J. Berridge, M.K. Stokke, N. Summerfield, N.J. Karin, P.C. Castilho, S.F. Altschul, S.L. Klein, V.D. Gunaratne HJand Vacquier, Y. Pan, Y. Zhang, Y.H. Chen, Y.H. Chen, Y.H. Chen, Y.H. Chen, Y.H. Wang, Y.H. Wang   +49 more
core   +1 more source

Defining the interactome of the pancreas‐specific SPCA2 isoform (SPCA2C) identifies unique links to store‐operated Ca2+ entry

The FEBS Journal, Volume 292, Issue 24, Page 6644-6669, December 2025.
A BioID screen identified interacting proteins for secretory pathway calcium (Ca2+) ATPase 2C (SPCA2C) and showed new links to store‐operated Ca2+ entry. Interactions between SPCA2C and Orai1 were confirmed, along with newly identified interactions with STIM1 and CCDC47.
Petra Samardzija, Melissa A. Fenech, Oneeb Hassan, Ryann Lang, McKenzie C. Carter, Stephanie Chen, Selina Shi, Rithwik Ramachandran, Peter B. Stathopulos, Christopher L. Pin   +9 more
wiley   +1 more source

Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia

BMC Medical Genetics, 2009
Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inherited cardiac disorder caused by mutations predominantly in the ryanodine receptor (RyR2) gene.
Toivonen Lauri, Viitasalo Matti, Lahtinen Annukka M, Laitinen-Forsblom Päivi, Marjamaa Annukka, Kontula Kimmo, Swan Heikki   +6 more
doaj   +1 more source

Physiological roles of lignins – tuning cell wall hygroscopy and biomechanics

New Phytologist, Volume 248, Issue 6, Page 2674-2706, December 2025.
Summary Lignins constitute the second most abundant carbon‐storing biopolymers in the biosphere. These phenolic polymers accumulate in different concentrations, compositions, and localisations within and between cell wall layers and cell types. Lignins were acquired during plant terrestrialisation 450 million years ago, and the diversification of their
Edouard Pesquet, Igor Cesarino, Shinya Kajita, Katharina Pawlowski   +3 more
wiley   +1 more source

Targeting RBM10‐Repressed RORB Activity in Liquid Condensates Inhibits Lysosomal Biogenesis and Neuroblastoma Progression via Affecting NF‐κB Signaling

Advanced Science, Volume 12, Issue 44, November 27, 2025.
This study identifies that RBM10 represses the transcriptional activity of RORB in liquid condensates, resulting in down‐regulation of NR1D1 and RIOK3 that further activates NF‐κB activity to facilitate lysosomal biogenesis and aggressive features of NB cells.
Yanhua Guo, Xiaojing Wang, Chunhui Yang, Zhijie Wang, Xiaolin Wang, Xinyue Li, Jiaying Qu, Shunchen Zhou, Liduan Zheng, Qiangsong Tong   +9 more
wiley   +1 more source

Treatment of Darier’s disease with oral magnesium: a case report

SAGE Open Medical Case Reports, 2018
Darier’s disease, an autosomal dominant genodermatosis, arises from a mutation in the ATP2A2 gene that codes for sarco/endoplasmic reticulum Ca 2+ -ATPase in the endoplasmic reticulum and is characterized by greasy keratotic papules commonly found in ...
Heidi Oi-Yee Li, Sophia Colantonio, Nordau Kanigsberg   +2 more
doaj   +1 more source

Darier′s disease in gastric malignancy: An unusual paraneoplastic phenomenon

Indian Journal of Dermatology, 2015
Darier′s disease is an autosomal dominant genodermatosis resulting from ATP2A2 gene mutation. A 62-year-old male presented at our outpatient (OPD) with sudden-onset numerous dirty, warty papules over the head, neck, and back since 2 months ...
Anusree Gangopadhyay, Arghyaprasun Ghosh, Saugato Biswas, Joydeep Singha, Ishad Aggarwal, Gobinda Chatterjee   +5 more
doaj   +1 more source

In vivo cell-autonomous transcriptional abnormalities revealed in mice expressing mutant huntingtin in striatal but not cortical neurons [PDF]

, 2017
Huntington's disease (HD), caused by a CAG repeat expansion in the huntingtin (HTT) gene, is characterized by abnormal protein aggregates and motor and cognitive dysfunction.
Brown, Timothy B., Coppola, Giovanni, Ehrlich, Michelle E., Geschwind, Daniel H., Kim, SoongHo, Kuhn, Alexandre, Luthi-Carter, Ruth, Tang, Bin, Thomas, Elizabeth A.   +8 more
core  

Dermoscopy: a useful auxiliary tool in the diagnosis of type 1 segmental Darier's disease [PDF]

, 2016
Type 1 segmental Darier's disease is a blaschkolinear variant of Darier's disease resulting from a postzygotic mosaicism. Since it usually lacks diagnostic clues typical of the generalized form, including positive family history of the disease, nail and ...
Errichetti, Enzo, Maione, Vincenzo, Pegolo, Enrico, Stinco, Giuseppe   +3 more
core   +2 more sources

Unilateral Darier’s disease – case report

Przegląd Dermatologiczny, 2017
Introduction . Darier’s disease (dyskeratosis follicularis, keratosis follicularis, Darier-White disease, Darier disease) is a rare genodermatosis inherited in autosomal dominant manner, caused by a mutation in the ATP2A2 gene located on chromosome 12 ...
Jolanta Węgłowska, Karolina Rajkowska-Strojs, Katarzyna Chrzanowska   +2 more
doaj   +1 more source