Results 181 to 190 of about 6,585,062 (339)

Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome. [PDF]

, 1993
Jerry Ware, Susan Russell, Patrizia Marchese, Mitsuru Murata, M. Mazzucato, Luigi De Marco, Zaverio M. Ruggeri   +6 more
openalex   +1 more source

DeNovoGear: de novo indel and point mutation discovery and phasing

Nature Methods, 2013
Avinash Ramu, M. J. Noordam, R. Schwartz, A. Wuster, M. Hurles, R. Cartwright, D. Conrad   +6 more
semanticscholar   +1 more source

Integrative miRNOMe profiling reveals the miR‐195‐5p–CHEK1 axis and its impact on luminal breast cancer outcomes

Molecular Oncology, EarlyView.
In luminal (ER+) breast carcinoma (BC), miRNA profiling identified miR‐195‐5p as a key regulator of proliferation that targets CHEK1, CDC25A, and CCNE1. High CHEK1 expression correlates with worse relapse‐free survival after chemotherapy, especially in patients with luminal A subtype.
Veronika Boušková, Marie Ehrlichová, Alžběta Spálenková, Ivona Krus, Simona Šůsová, Viktor Hlaváč, Vlasta Němcová, Renata Koževnikovová, Markéta Trnková, David Vrána, Jiří Gatěk, Kateřina Kopečková, Marcela Mrhalová, Soňa Měšťáková, Pavel Souček   +14 more
wiley   +1 more source

A single point mutation on FLT3L-Fc protein increases the risk of immunogenicity. [PDF]

Front Immunol
Qin D, Phung Q, Wu P, Yin Z, Tam S, Tran P, ElSohly AM, Gober J, Hu Z, Zhou Z, Cohen S, He D, Bainbridge TW, Kemball CC, Zarzar J, Sreedhara A, Stephens N, Decalf J, Moussion C, Ye Z, Balazs M, Li Y.   +21 more
europepmc   +1 more source

Point mutations in the yeast histone H4 gene prevent silencing of the silent mating type locus HML. [PDF]

, 1990
E C Park, J W Szostak
openalex   +1 more source

Point Mutations and Their Evolutionary Significance

Point Mutations and Their Evolutionary Significance Abstract Point mutations, involving single-nucleotide alterations in DNA sequences, are fundamental drivers of genetic variation and evolution. These mutations can lead to significant phenotypic changes, influence fitness, and shape the evolutionary trajectories of populations. This article explores
openaire   +1 more source

Association of high‐dose radioactive iodine therapy with PPM1D‐mutated clonal hematopoiesis in older individuals

Molecular Oncology, EarlyView.
In thyroid cancer patients, high‐dose (≥7.4 GBq) radioactive iodine therapy (RAIT) was associated with a higher prevalence of clonal hematopoiesis (variant allele frequency >2%) in individuals aged ≥50 years (OR = 2.44). In silico analyses showed that truncating PPM1D mutations conferred a selective advantage under these conditions.
Jaeryuk Kim, Sungwoo Bae, Jaeyong Choi, Sun‐Wha Im, Bukyoung Cha, Gyeongseo Jung, Sun Wook Cho, Eul‐Ju Seo, Young Ah Lee, Jin Chul Paeng, Young Joo Park, Jong‐Il Kim   +11 more
wiley   +1 more source

A FAN1 point mutation associated with accelerated Huntington's disease progression alters its PCNA-mediated assembly on DNA. [PDF]

Nat Commun
Aretz J, Jeyasankar G, Salerno-Kochan A, Thomsen M, Thieulin-Pardo G, Haque T, Monteagudo E, Felsenfeld D, Finley M, Vogt TF, Boudet J, Prasad BC.   +11 more
europepmc   +1 more source

A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report. [PDF]

BMC Pediatr, 2023
Yang X, Pu S, Xiang B, Tang X, Chen J.
europepmc   +1 more source

Point mutation of glycine receptor α1 subunit in the spasmodic mouse affects agonist responses [PDF]

, 1994
Brigitta Saul, Volker Schmieden, Claudia Kling, Cornel Mülhardt, Peter Gass, Jochen Kuhse, Cord‐Michael Becker   +6 more
openalex   +1 more source