Results 171 to 180 of about 68,329 (260)

A Quarter Century of EHD Protein Research: From Endosomal Recycling to Ciliopathies

Traffic, Volume 27, Issue 3, September 2026.
Human EHD protein subcellular localization. ABSTRACT Eps15 homology domain‐containing proteins comprise a conserved family of membrane‐remodeling ATPases that regulate endocytic trafficking, membrane fission, receptor recycling, primary ciliogenesis and membrane dynamics across eukaryotes. Since the initial identification of EHD1 and its Caenorhabditis
Devin Frisby, Gunjan Misri, Naava Naslavsky, Steve Caplan   +3 more
wiley   +1 more source

Ultrasound-assisted diagnosis and ultrasound-guided radiofrequency ablation of renal cell carcinoma in a patient with autosomal dominant polycystic kidney disease: a case report with two-year follow-up. [PDF]

BMC Nephrol
Yu X, Liu R, Sun Z, Wang L, Ma J, Wang S, Liu X, Zhang B.   +7 more
europepmc   +1 more source

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, Volume 20, Issue 8, Page 2023-2039, August 2026.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Macroscopic hematuria in children with autosomal dominant polycystic kidney disease - report from four European tertiary centers. [PDF]

Eur J Pediatr
Seeman T, Bláhová K, Fencl F, John-Kroegel U, Weigel F, Šuláková T, Podracká L, Feber J.   +7 more
europepmc   +1 more source

FUCA2 Sustains AKT Signaling and Suppresses Senescence by Antagonizing FUT3‐Mediated ErbB3 Fucosylation in Lung Adenocarcinoma

Advanced Science, Volume 13, Issue 44, 7 August 2026.
ABSTRACT While targeted therapies have improved outcomes in lung adenocarcinoma (LUAD), many patients still lack targetable mutations. Here, we identified alpha‐L‐fucosidase 2 (FUCA2) as a crucial driver of LUAD by preventing cellular senescence. Mechanistically, through the restriction of fucosyltransferase 3 (FUT3)‐mediated α‐1,3‐fucosylation of ...
Lu Chen, Jintao Guo, Fei Li, Mingjie Gao, Runyang Li, Zhaozhang Huang, Yaolin Zheng, Chunyi Gao, Jihuan Hou, Qiang Yu, Bowen Zheng, Xuemei Chen, Wenqing Zhang, Xiaoting Hong, Yali Zheng, Daxuan Wang, Qiyuan Li, Tianhui Hu, Yan‐yan Zhan   +18 more
wiley   +1 more source

A Novel CRB2 Mutation Associated With FSGS and ESRD in an Adult Patient. [PDF]

Case Rep Nephrol
Marchini M, Mocka S, Trezzi M.
europepmc   +1 more source

Global Burden of Clinostomum complanatum in Freshwater Fish: A Systematic Review and Meta‐Analysis of Prevalence and Pathological Effect

Aquaculture, Fish and Fisheries, Volume 6, Issue 4, August 2026.
ABSTRACT Clinostomum complanatum infection is a trematode parasite infecting diverse freshwater fish hosts, causing pathological damage and economic losses. Despite its veterinary and public health importance, its global burden remains insufficiently quantified. This study aimed to assess the global burden of C.
Mengesha Ayehu Getnet, Melkie Dagnaw Fenta, Asnakew Mulaw Berihun, Wilmien Luus Powell, Moges Maru Alemayehu, Tameru Gedefaw Mebratie, Zenebe Jemere Aragaw, Zewdu Seyoum Tarekegn   +7 more
wiley   +1 more source

A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis. [PDF]

CEN Case Rep
Sy PM, Baba M, Fujiwara K, Yamamura N, Kawato K, Nishi E, Aoyama S, Kimura Y, Inoki Y, Nagano C, Sakakibara N, Horinouchi T, Yamamura T, Ishimori S, Morisada N, Nozu K.   +15 more
europepmc   +1 more source

Expanding the Phenotype of TUFM ‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1884-1889, August 2026.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Identification of a Novel De Novo Heterozygous SEC61A1 Variant in a Patient With Severe Congenital Neutropenia. [PDF]

Mol Genet Genomic Med
Wang Z, Jing H, Chen Y, Zhong L, Yang J.
europepmc   +1 more source