Results 191 to 200 of about 241,061 (333)

Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories

International Journal of Cancer, EarlyView.
What's New? TP53 is included in most cancer predisposition multigene panels, but analyzing the contribution of TP53 variants to cancer predisposition beyond the Li–Fraumeni syndrome remains challenging. This study, based on 53,085 hereditary breast and ovarian cancer panel analyses, explores the genotype–phenotype correlation of TP53 variants and ...
Edwige Kasper, Flavie Boulouard, Noémie Basset, Lisa Golmard, Hella Sassi, Emilie Bouvignies, Maud Branchaud, Camille Charbonnier, Nathalie Parodi, Marion Rolain, Juliette Albuisson, Ayman al Saati, Patrick Benusiglio, Pascaline Berthet, Marie Bidart, Céline Bonnet, Ahmed Bouras, Nadia Boutry‐Kryza, Fanny Brayotel, Virginie Bubien, Adrien Buisson, Laurent Castéra, Olivier Caron, Chrystelle Colas, Florence Coulet, Capucine Delnatte, Valentin Derangère, Alice Fievet, Céline Garrec, Marion Gauthier‐Villars, Mathilde Gay‐Bellile, Vincent Goussot, Jessica le Gall, Mathis Lepage, Anna Lokchine, Alexandre Perrier, Etienne Rouleau, Nicolas Sevenet, Dominique Stoppa‐Lyonnet, Jean‐Marie Ravel, Pierre Vande Perre, Dominique Vaur, Paul Vilquin, Gaëlle Bougeard, Stéphanie Baert‐Desurmont, Jean‐Christophe Thery, Claude Houdayer   +46 more
wiley   +1 more source

Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene

Stem Cell Research
X-linkded Ohdo syndrome is characterized mainly by intellectual disability, delays in reaching development, feeding difficulties, thyroid dysfunction, and dysmorphic appearance with blepharophimosis, immobile mask-like face and bulbous nose. The X-linked
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj  

Affected Siblings with Alzheimer's Disease Had Missense Mutation of Codon 717 in Amyloid Precursor Protein Gene.

, 1992
Katsuya Tanabe, T. Miki, Hirotaka Tanabe, Masanobu Takeda, Keiichi Hosokawa, Hideki Hayashi, Shu‐ichi Hashimoto, Tomoko Nishimura, Takehide Ogihara   +8 more
openalex   +2 more sources

Addition of a Missense Mutation Present in the L Gene of Respiratory Syncytial Virus (RSV)cpts530/1030 to RSV Vaccine Candidatecpts248/404 Increases Its Attenuation and Temperature Sensitivity [PDF]

, 1999
Stephen S. Whitehead, Cai-Yen Firestone, Ruth A. Karron, James E. Crowe, William R. Elkins, Peter L. Collins, Brian R. Murphy   +6 more
openalex   +1 more source

Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome

International Journal of Cancer, EarlyView.
What's New? Serrated polyposis syndrome has been associated with an increased risk of colorectal cancer. HIC1 is a tumor suppressor gene commonly silenced in serrated polyps and several cancers. This study suggests HIC1 as a novel germline predisposition factor to serrated polyposis syndrome, with variants altering gene transcriptional regulation and ...
Xavier Domínguez‐Rovira, Coral Arnau‐Collell, Gemma Gonfaus‐Ortiz, Gemma Llargués‐Sistac, Jenifer Muñoz, Ainara Llopis, Yasmin Soares de Lima, Cristina Herrera‐Pariente, Leticia Moreira, Teresa Ocaña, Marcos Díaz‐Gay, Miriam Cuatrecasas, Sabela Carballal, Anael López‐Novo, Guerau Fernàndez, Antoni Castells, Luis Bujanda, Gabriel Capellà, Joaquín Cubiella, Daniel Rodríguez‐Alcalde, Laura Valle, Francesc Balaguer, Clara Ruiz‐Ponte, Laia Bonjoch, Sergi Castellví‐Bel   +24 more
wiley   +1 more source

From multi‐omics to precision medicine in intracranial aneurysm: Biomarker discovery and multimodal integration

Interdisciplinary Medicine, EarlyView.
This review explores intracranial aneurysm biomarker discovery through multi‐omics. It reveals key genes, proteins, and metabolites, and shows how machine‐learning‐based multi‐modal integration may aid diagnosis and treatment. Abstract Despite extensive research, currently, no biomarkers are available for clinical use in intracranial aneurysm (IA ...
Jiaxin Zhang, Yufei Yang, Bingxu Chen, Yanmeng Zhao, Haitao Sun   +4 more
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

Mitochondrial tRNAGlu 14687A>G May Be A Novel Mutation for Type 2 Diabetes Mellitus

Journal of Clinical Laboratory Analysis, EarlyView.
We identified a novel mitochondrial tRNAGlu 14687A>G mutation in a Han Chinese pedigree with diabetes; the m.14687A>G mutation occurred at a conserved nucleotide of tRNAGlu, which was important for tRNA structure and function. Using a cybrid cell model, we found that mutant cells exhibited much more severe mitochondrial dysfunctions than control cells,
Xiaojuan Rao, Liran Xie, Shuangwei Shi, Yifan Fang   +3 more
wiley   +1 more source

A missense mutation in the KCNE4 gene is not predictive of equine anhidrosis. [PDF]

Anim Genet
van der Graaf L, Leigh W, Szmatoła T, Roberts K, Ryan S, Brown B, Van Buren S, Finno CJ, Petersen JL.   +8 more
europepmc   +1 more source

Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family [PDF]

, 1998
Kaoru Akimoto, Michiko Furutani, Shinichiro Imamura, Yoshiyuki Furutani, Hiroshi Kasanuki, Atsuyoshi Takao, Kazuo Momma, Rumiko Matsuoka   +7 more
openalex   +1 more source