Results 231 to 240 of about 1,702,970 (343)

Prenatal Imaging of Micrognathia, Micromelia, and Fetal Hydrops Leading to the Diagnosis of Achondrogenesis Type II with a <i>COL2A1</i> Missense Mutation. [PDF]

Int J Mol Sci
Wu YC, Chen CY, Chen GY, Hsiao CH, Chu WC, Huang JY.   +5 more
europepmc   +1 more source

Immune, molecular and genetic profiles of gastric signet ring cell carcinoma: Recent progress and future challenges

International Journal of Cancer, EarlyView.
Abstract Gastric signet ring cell carcinoma (GSRCC) is a special type of gastric cancer common in young women. Diffuse gastric cancer (DGC) begins with intramucosal lesions comprising differentiated GSRCC cells. Genetically, GSRCC and DGC are clonally identical, with their morphology influenced by extracellular Wnt signaling.
Qian Wang, Shuai Zhou, Xiongchao Fang, Xianli He, Gang Wang, Nan Wang   +5 more
wiley   +1 more source

The missense mutation Y65C in PQBP1 causes microcephaly and cognitive deficits through a combination of partial loss-of-function and gain-of-function effects. [PDF]

Nat Commun
Yuan L, Cheng S, Liu X, Liu W, Xie T, Xie W, Zhang ZC, Han J.   +7 more
europepmc   +1 more source

SUMOylation regulates tumorigenesis and progression: Molecular mechanisms and therapeutic applications

Interdisciplinary Medicine, EarlyView.
SUMOylation, a dynamic post‐translational modification, acts as a master regulator at the heart of tumor malignancy. Our work delineates how the SUMOylation cycle—mediated by E1/E2/E3 enzymes and reversed by SENPs—orchestrates multiple hallmarks of cancer. The central pathway converges on three critical pathological axes: 1.
Yimao Wu, Zichang Chen, Yinting Hu, Gokhan Zengin, Qian Zhang, Meng‐Yao Li, Wenlong Sun   +6 more
wiley   +1 more source

Cerebral small vessel disease related to a heterozygous missense mutation in HTRA1: A case report. [PDF]

Medicine (Baltimore)
Gao Y, Zheng Y, Lian J, Zeng L, Zeng L.
europepmc   +1 more source

Alpha‐Synuclein Promotes Anterograde Vesicle Transport in Melanocytes and Melanoma Cells: A Pro‐Survival Function

Journal of the Chinese Chemical Society, EarlyView.
Model for how α‐syn modulates the positioning of endolysosomes in melanoma cells. (a) α‐syn tethers endolysosomes to the plasma membrane, a last step in anterograde transport. (b) Loss of α‐syn expression causes the loss of the tethering function, which leads to perinuclear vesicle clustering. Reproduced from the open access article.
Stephan N. Witt
wiley   +1 more source

Identification and functional study of a novel FOXC1 missense mutation in a Chinese family with Axenfeld-Rieger syndrome. [PDF]

Sci Rep
Gong X, Lei X, Li Z, Xing Y.
europepmc   +1 more source

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

JPGN Reports, EarlyView.
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno, Angelo Corso Faini, Silvia Deaglio, Marianna Pellegrini, Raffaele Buganza, Francesca Giuliani, Pier Luigi Calvo, Michele Pinon   +7 more
wiley   +1 more source

Pathogenicity effects of a <i>COL2A1</i> missense mutation (c.1594G>C) in cartilage development. [PDF]

Transl Pediatr
Zhou J, Yuan T.
europepmc   +1 more source

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C. Lin   +4 more
wiley   +1 more source