Results 191 to 200 of about 91,518 (258)

Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect. [PDF]

Genes (Basel), 2020
Okutman Ö, Demirel C, Tülek F, Pfister V, Büyük U, Muller J, Charlet-Berguerand N, Viville S.   +7 more
europepmc   +1 more source

Non‐Coding Transcripts From Diversified Members of IgLec Family Protect Antiviral Effectors From Viral miRNA

Advanced Science, EarlyView.
The IgLec gene family generates both protein‐coding antiviral effectors and non‐coding transcripts. Upon viral infection, non‐coding transcripts are preferentially targeted by viral miR‐N48, thereby buffering protein‐coding isoforms from repression. Depletion of these decoy transcripts compromises antiviral defense, revealing a non‐coding RNA‐mediated ...
Ying Huang, Rui Shen, Xin Huang, Gu‐Qin Ji, Jiang‐Feng Lan, Qian Ren   +5 more
wiley   +1 more source

Identification and functional characterization of a novel heterozygous splice‑site mutation in the calpain 3 gene causes rare autosomal dominant limb‑girdle muscular dystrophy. [PDF]

Exp Ther Med
Mao B, Yang J, Zhao X, Jia X, Shi X, Zhao L, Banerjee S, Zhang L, Ma X.   +8 more
europepmc   +1 more source

Galactokinase 1 Positively Regulates Mitochondrial Respiration by Phosphorylating TIMM13 as a Protein Kinase

Advanced Science, EarlyView.
GALK1 acts as a protein kinase beyond the phosphorylation of galactose. GALK1 phosphorylates TIMM13 at Y73 in the cytoplasm. This phosphorylation prevents premature oxidative folding of TIMM13 and ensures its entrance into the intermembrane space of mitochondrion, positively regulating mitochondrial respiration.
Chang Woo Ko, Dongyoon Shin, Junho Park, June Huh, Youngsoo Kim, Jong‐Wan Park   +5 more
wiley   +1 more source

Digoxin Alleviates Osteoarthritis by Inhibiting Macrophage Extracellular Trap Formation via Disruption of the LSP1‐SOD1 Interaction

Advanced Science, EarlyView.
Synovial macrophages in osteoarthritis upregulate LSP1, which directly binds and inhibits SOD1, triggering a redox imbalance that activates both NOX and mitochondrial ROS pathways. This cascade drives the release of macrophage extracellular traps (METs), causing chondrocyte damage and disease progression.
Yankai Pan, Xinzhe Feng, Chuanju Liu, Jianfei Tong, Zhi Li, Chenxu Liu, Yutong Dong, Chen Meng, Yihong Xu, Weidong Xu   +9 more
wiley   +1 more source

When Biology Meets Medicine: A Perspective on Foundation Models

Advanced Intelligent Discovery, EarlyView.
Artificial intelligence, and foundation models in particular, are transforming life sciences and medicine. This perspective reviews biological and medical foundation models across scales, highlighting key challenges in data availability, model evaluation, and architectural design.
Kunying Niu, Yuxing Wang, Limin Zou, Jing Huang   +3 more
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Case report: A novel splice-site mutation of <i>MTX2</i> gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review. [PDF]

Front Endocrinol (Lausanne)
Fu X, Chen S, Huang X, Lu Q, Cui Y, Lin W, Yang Q.   +6 more
europepmc   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source