Results 261 to 270 of about 241,061 (333)

Surgical outcomes of a congenital nystagmus family with a missense mutation in the FRMD7 gene. [PDF]

Heliyon
Liu J, Wang M, Pang H, Liu F, Bu J.
europepmc   +1 more source

The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis

, 1997
Magitha M. Maheshwar, Jeremy P. Cheadle, Adriane C. Jones, J Myring, Alan Fryer, Peter C. Harris, Julian R. Sampson   +6 more
openalex   +1 more source

The Actin‐Binding Prolyl‐Isomerase Par17 Sustains Its Substrate Selectivity by Interdomain Allostery

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT The human peptidyl‐prolyl‐cis/trans isomerases (PPIases), Parvulin 14 and Parvulin 17, accelerate the cis/trans isomerization of Xaa‐Pro moieties within protein sequences. By modulating the respective binding interfaces of their target proteins, they play a crucial role in determining the fate of their substrates within the cell. Although both
Anna Sternberg, Jennifer Lynne Borger, Mathilda Thies, Anja Matena, Mike Blueggel, Bianca E. Kamba, Christine Beuck, Farnusch Kaschani, Markus Kaiser, Peter Bayer   +9 more
wiley   +1 more source

46 XX Ovotesticular Disorder of Sex Development with Gonadotropin-Releasing Hormone Receptor, Autosomal Recessive Heterozygous Missense Mutation and Autosomal Dominant Heterozygous Missense Mutation of the PROKR2 Gene: A Case Report. [PDF]

Glob Med Genet
Peranzoni F, De Castro R, Merlini E, Nguyen YL.   +3 more
europepmc   +1 more source

Rediscovery of the Tubulin β‐4A p.Arg2Gly Variant in Whispering Dysphonia: A Report from Austria

Movement Disorders, EarlyView.
Omar Keritam, Susann Badmann, Maureen Jacob, Philip Harrer, Christine Klein, Annabella Kurz, Hakan Cetin, Michael Zech   +7 more
wiley   +1 more source

Whole‐exome sequencing in families from Lifou Island (New Caledonia) reveals candidate variants involved in gout pathogenesis

Rheumatology &Autoimmunity, Volume 5, Issue 2, Page 147-151, June 2025.
Strategy to identify variants involved in gout pathogenesis in New Caledonia. Abstract Background Gout, which manifests as severe inflammation caused by excessive serum urate levels and monosodium urate deposits in the joints, is associated with multiple genomic loci in Europeans.
Philippe Georgel, Yves‐Marie Ducrot, Anne Molitor, Nicodème Paul, Lydie Naegely, Antoine Hanauer, Thomas Bardin, Gaston Rijo de Leon, Etienne Patin, Luis Quintana‐Murci, Mariko Matsui, Marc Jouan, Seiamak Bahram, Raphael Carapito   +13 more
wiley   +1 more source

Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma. [PDF]

Front Oncol
Hao Y, Wu R, Chen X, Shen Y, Chou M, Yang J.   +5 more
europepmc   +1 more source

Novel LPIN2 mutations in Majeed syndrome induce NF‐κB pathway activation

Rheumatology &Autoimmunity, EarlyView.
This study identifies novel LPIN2 mutations in Majeed syndrome that induce NF‐κB pathway activation, linking defective LPIN2 function to aberrant inflammation in this rare autoinflammatory disorder.
Yibing Han, Renmei Cai, Yuanxuan Ma, Shiguo Liu, Bin Liu   +4 more
wiley   +1 more source

VHL missense mutation delineate aggressive clear cell renal cell carcinoma subtype with favorable immunotherapeutic response. [PDF]

J Immunother Cancer
Xu Z, Liu L, Jiang W, Qiu Y, Zhang B, Cheng J, Luo J, Guo J, Xu J.   +8 more
europepmc   +1 more source

Integrating construction and spatial imaging of organoid for tumor metabolic heterogeneity and interactions

VIEW, EarlyView.
Enzymatically derived tissue debris (TD) is utilized to establish patient‐derived lung cancer tissue spheres (LCOs), which, in conjunction with mass spectrometry imaging, enable the investigation of tumor metabolic heterogeneity and maintenance of CSCs.
Ling Guo, Zhaohua Xia, Jiaxin Wang, Xiaoling Yu, Chuanyue Wu, Qian Luo, Chao Zhao   +6 more
wiley   +1 more source