Results 151 to 160 of about 91,518 (258)

Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study. [PDF]

Front Med (Lausanne)
Liu L, Du H, Wang N, Lv S, Yu C, Deng L.
europepmc   +1 more source

Correction to: Clinical and experimental phenotype of azole-resistant Aspergillus fumigatus with a HapE splice site mutation: a case report. [PDF]

BMC Infect Dis, 2021
Ito Y, Takazono T, Koga S, Nakano Y, Ashizawa N, Hirayama T, Tashiro M, Saijo T, Yamamoto K, Imamura Y, Miyazaki T, Yanagihara K, Izumikawa K, Mukae H.   +13 more
europepmc   +1 more source

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source

Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature. [PDF]

World J Diabetes
Wang K, Zheng J, Gu LC, Li RR, Su XD, Bai J, Liao L.   +6 more
europepmc   +1 more source

m5C Reader ALYREF Promotes the Progression of Endometrial Cancer by Activating the XRCC6‐Mediated Wnt/β‐catenin Signaling Pathway

Advanced Science, EarlyView.
This study identifies ALYREF as an oncogenic m5C reader in endometrial cancer. ALYREF recognizes NSUN2‐mediated m5C modification on XRCC6 mRNA to enhance transcript stability and increase XRCC6 expression. Elevated XRCC6 activates Wnt/β‐catenin signaling, resulting in accelerated tumor cell proliferation, migration, invasion, and xenograft tumor growth.
Linlin Hao, Jian Zhang, Qi Qian, Min Jiang, Yu Liu, Yan Geng, Nan Cui, Qi Guo, Jie Guo   +8 more
wiley   +1 more source

NSUN2‐Mediated m5C Modification of TGFB1 in Trophoblasts Remodels Macrophage Function to Prevent URSA

Advanced Science, EarlyView.
NSUN2 and m5C decline in URSA villous tissues. Trophoblast Nsun2 ablation disrupts macrophage‐mediated maternal‐fetal tolerance and triggers embryo resorption. Mechanistically, NSUN2‐YBX1 axis stabilizes m5C‐modified TGFB1 mRNA to maintain TGF‐β1 secretion and M2 polarization, and restoring this signaling rescues maternal‐fetal immune tolerance to ...
Xiaoxiao Zhu, Xinkui Liu, Xiaoyan Yu, Qiaoqiao Han, Feifei Shi, Weiwei Song, Lu Liu, Chu Chu, Chenyang Shen, Zhen Zhang, Xia Li   +10 more
wiley   +1 more source

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia. [PDF]

Iran Biomed J, 2021
Jamali E, Khalesi R, Bitarafan F, Almadani N, Garshasbi M.   +4 more
europepmc   +1 more source

Retinal detachment associated with the splice site mutation c.53-1G>A in the <i>RS1</i> gene: A case report and review of the literature. [PDF]

SAGE Open Med Case Rep
Meng J, Cai S, Su G.
europepmc   +1 more source

Clinical and experimental phenotype of azole-resistant Aspergillus fumigatus with a HapE splice site mutation: a case report. [PDF]

BMC Infect Dis, 2021
Ito Y, Takazono T, Koga S, Nakano Y, Ashizawa N, Hirayama T, Tashiro M, Saijo T, Yamamoto K, Imamura Y, Miyazaki T, Yanagihara K, Izumikawa K, Mukae H.   +13 more
europepmc   +1 more source