Results 91 to 100 of about 15,686 (159)

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome

, 2015
Keratoderma-hypotrichosis-leukonychia totalis syndrome (KHLS) is an extremely rare, autosomal-dominant disorder characterized by severe skin hyperkeratosis, congenital alopecia and leukonychia totalis.
Lin, Zhimiao, Ren, Yali, Wang, Huijun, Zhou, Eray Yihui, Jia, Xinying, Lee, Mingyang, Guan, Liping, Zhang, Jianguo, Lin, Xuan, Yin, Jinghua, Cao, Xu, Dai, Lanlan, Zhang, Jie, Chen, Quan, Feng, Cheng, Xu, Guiwen, Yang, Yong   +16 more
core   +1 more source

Blood exosome connexins and small RNAs related to demyelinating disease activity

Annals of Clinical and Translational Neurology
Objectives To assess blood exosome (Ex)‐connexin (Cx)43 (encoded by GJA1) and its truncated isoforms in multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD), which show distinct alterations in astroglial Cx43. Methods Serum Exs from
Guzailiayi Maimaitijiang, Jun‐ichi Kira, Yuri Nakamura, Mitsuru Watanabe, Ezgi Ozdemir Takase, Satoshi Nagata, Ayako Sakoda, Xu Zhang, Katsuhisa Masaki, Ryo Yamasaki, Noriko Isobe, Hiroo Yamaguchi, Tomohiro Imamura   +12 more
doaj   +1 more source

GJA1 expression and gap junction formation in the bladders of mice with cystitis.

, 2014
A: qPCR revealed significantly elevated expression of Gja1 mRNA in the whole bladder at 6 hours after treatment (n = 4).
Osamu Ogawa (95712), Nobuyuki Nishikawa (609886), Akihiro Kanematsu (609888), Masaaki Imamura (609885), Hikaru Hashitani (609889), Hiromitsu Negoro (424632), Koji Yoshimura (529173), Takeshi Okinami (609884), Yoshio Sugino (609887)   +8 more
core   +1 more source

Regulation of food intake by Connexin43 via adipocyte-sensory neuron electrical synapses

Molecular Metabolism
Background and objective: Connexin43 (Cx43), encoded by Gja1, forms gap junctions between adjacent cells. In adipose tissue, it is upregulated during adipose beiging while downregulated by high-fat-diet (HFD) feeding.
Xi Chen, Xing Fang, Hong Zhou, Jieyi Meng, Yang He, Leon G. Straub, Andrew Lemoff, Clair Crewe, Shangang Zhao, Yong Xu, Yi Zhu   +10 more
doaj   +1 more source

Phosphoproteomic Analysis and Protein-Protein Interaction of Rat Aorta GJA1 and Rat Heart FKBP1A after Secoiridoid Consumption from Virgin Olive Oil: A Functional Proteomic Approach

, 2021
© 2020 American Chemical Society. All rights reserved. Protein functional interactions could explain the biological response of secoiridoids (SECs), main phenolic compounds in virgin olive oil (VOO).
Pedret A; Catalán Ú; Rubió L; Baiges I; Herrero P; Piñol C; Rodríguez-Calvo R; Canela N; Fernández-Castillejo S; Motilva MJ; Solà R
core  

Régulation de l'expression du gène Gja1 impliqué dans la formation de jonctions communicantes au niveau du testicules de souris

, 2017
Dans le testicule adulte, les cellules de Leydig sont les principales productrices d’androgènes, comme la testostérone, tandis que les cellules de Sertoli protègent, nourrissent et assurent le bon développement des cellules germinales en ...
Ghouili, Firas
core   +1 more source

Expressional and functional involvement of gap junctions in aqueous humor outflow into the ocular trabecular meshwork of the anterior chamber

Molecular Vision, 2019
Purpose: The ocular trabecular meshwork (TM) responsible for aqueous humor (AH) drainage is crucial for regulating intraocular pressure (IOP) of the eye.
Hongxia, Yongzhen, Wenshi, Xia , Xian , Xiaojing , KeWei, Wei   +7 more
doaj  

Genetics And Pathobiology Of Gja1 Mutations In Erythrokeratodermia Variabilis Et Progressiva

, 2018
Connexins are gap junction proteins that assemble between adjacent cells, directly linking their cytoplasm and permitting the passage of ions and other small molecules between them. Previously, mutations in GJB3, GJB4, and GJA1, encoding connexins 31, 30.
Khan, Habib Mujib
core   +1 more source

Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: Assessment of GJB4, GJA1, and GJC3 [PDF]

, 2013
Objective: Autosomal recessive non-syndromic hearing loss (ARNSHL) can be caused by many genes. However, mutations in the GJB2 gene, which encodes the gap-junction (GJ) protein connexin (Cx) 26, constitute a considerable proportion differing among ...
Abolhasani, Marziyeh., Tabatabaiefar, Mohammad Amin., Farrokhi, Effat., Noori-Daloii, Mohammad Reza., Hashemzadeh-Chaleshtori, Morteza., Kooshavar, Daniz.   +5 more
core  

Phenotypic and Molecular Features of a Large ODDD Family: Expanding the Spectrum of CX43-Related Disorder. [PDF]

Int J Mol Sci
Ambrosetti I, Palombo F, D'Angeli D, Ormanbekova D, Fiorini C, Pietra A, Cristalli CP, Lodi R, Tonon C, Liguori R, Carelli V, Rizzo G, Vaisfeld A.   +12 more
europepmc   +1 more source