Results 231 to 240 of about 879,135 (289)

Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies

Journal of Cell Communication and Signaling, Volume 20, Issue 3, September 2026.
This review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Qiaowei Zhang, Shuwen Xue, Zhi Gao, Panlai Shi, Li Wang, Qi Feng, Xiangdong Kong, Xiaofan Zhu   +7 more
wiley   +1 more source

A case report of X-linked centronuclear myopathy in a neonate: clinical presentation, therapeutic process, and genetic insights. [PDF]

Front Pediatr
Liao H, Jiang M, Zhong X, Luo X, Qiu H, Pan H, Gan J, Zhong S.   +7 more
europepmc   +1 more source

Pragmatic Phenotype–Electrophysiology–Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single‐Center Study in China

CNS Neuroscience &Therapeutics, Volume 32, Issue 9, September 2026.
In 36 Chinese pediatric CMS patients, integrated phenotype, RNS, and genomic assessment revealed marked genetic heterogeneity across 17 CMS‐associated genes and frequent VUS‐related uncertainty. Genotype‐informed therapy improved MG‐ADL scores, while CHAT‐CMS identified a high‐risk subgroup for early respiratory failure and mortality.
Liya Cui, Kaiyue Ma, Xiaona Fu, Lin Ge, Bingbing Jia, Wenna Ma, Lei Yang, Zhimei Liu, Junlan Lv, Wenmiao Xu, Lijuan Wang, Guangyuan Zhao, Jiuwei Li, Jie Wu, Quan Wang, Changhong Ding, Xiaotun Ren, Xinming Shen, Hui Xiong   +18 more
wiley   +1 more source

CircFut8 Suppresses Bladder Cancer by Modulating SRSF9‐Dependent Pre‐mRNA Splicing

The Journal of Gene Medicine, Volume 28, Issue 9, September 2026.
This schematic illustrates the mechanism by which circFut8 suppresses bladder cancer progression. Under high circFut8 levels, circFut8 competitively binds the splicing factor SRSF9, reducing SRSF9's association with FUT8 pre‐mRNA. This promotes exon 3 skipping, leading to increased production of the FUT8‐4 splice variant, which correlates with reduced ...
Weifeng Yang, Lv Yao, Lijun Wan, Changshui Zhuang   +3 more
wiley   +1 more source

Clinical Spectrum, Heteroplasmy-Phenotype Correlation, and Prognosis of the MT-ND3 m.10191 T > C Mutation. [PDF]

CNS Neurosci Ther
He Z, Jiang H, Li T, Liu Y, Zou Y, Xu C, Liu Z, Shen D, Duan R, Song M, Zhang Y, Zhang Z, Sun M, Shen R, Xue H, Fang F.   +15 more
europepmc   +1 more source

<i>GRIA3</i> Duplication at Xq25 in a Young Adult Male With Profound Intellectual Disability and Morbid Obesity: A Case Report. [PDF]

Case Rep Genet
Yatsuga S.
europepmc   +1 more source

Infantile tremor syndrome: a case series from the tertiary care center of Nepal. [PDF]

Front Nutr
Basnet S, Bajracharya L, K C S.
europepmc   +1 more source

Ocular Nystagmus as the Initial Presenting Feature in a Patient with Complete <i>CLTC</i> Deletion: Expanding the Genotype-Phenotype Spectrum of <i>CLTC</i>-Related Disorder. [PDF]

Genes (Basel)
Yang X, Pan R, Yu F, Wu H, Shah NM, Li H.   +5 more
europepmc   +1 more source

Acetazolamide to prevent ventilatory drive withdrawal in REM sleep apnoea: a randomised controlled trial. [PDF]

Thorax
Messineo L, Kim M, Azarbarzin A, Vena D, Preuss M, Esmaeili N, Aishah A, Lawrence NV, Gilbertson DC, White DP, Wellman A, Sands SA.   +11 more
europepmc   +1 more source