Results 31 to 40 of about 140,139 (75)

Editorial: Functional study of novel VUS (variant of uncertain significance) mutations in single-gene inherited disease. [PDF]

Front Genet
Yang G, Zhong H, Wen H, Shen Y.
europepmc   +1 more source

Clinical impact of TP53 functional mutations in patients with metastatic colorectal cancer treated with bevacizumab and chemotherapy. [PDF]

Oncologist
Ruzzo A, Graziano F, Palladino S, Fischer NW, Catalano V, Giordani P, Malkin D, Tamburrano T, Patriti A, Petrelli F, Sarti D, Chiari R.   +11 more
europepmc   +1 more source

A new view of missense mutations in α-mannosidosis using molecular dynamics conformational ensembles. [PDF]

Protein Sci
Mandl Š, Di Geronimo B, Alonso-Gil S, Grininger C, George G, Ferstl U, Herzog SA, Žagrović B, Nusshold C, Pavkov-Keller T, Sánchez-Murcia PA.   +10 more
europepmc   +1 more source

Clinical, genetic and functional perspectives on ATP-binding cassette subfamily B member 4 variants in five cholestasis adults. [PDF]

World J Gastroenterol
Weng YH, Zheng YF, Yin DD, Xiong QF, Li JL, Li SX, Chen W, Yang YF.   +7 more
europepmc   +1 more source

Benefit from maintenance with PARP inhibitor in newly diagnosed ovarian cancer according to BRCA1/2 mutation type and site: a multicenter real-world study. [PDF]

ESMO Open
Marchetti C, Fagotti A, Fruscio R, Cassani C, Incorvaia L, Perri MT, Sassu CM, Camnasio CA, Giudice E, Minucci A, Seca M, Arbustini E, Vertechy L, De Bonis M, Boccia SM, Giannarelli D, Salutari V, Distefano M, Ferrandina MG, Nero C, Musacchio L, Russo A, Scambia G, Lorusso D.   +23 more
europepmc   +1 more source

A missense mutation in PDHB gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro. [PDF]

Ital J Pediatr
Li Y, Cheng L, Li X, Liu J, Yi L, Bo T.
europepmc   +1 more source

Limited Diversity of Thermal Adaptation to a Critical Temperature in <i>Zymomonas mobilis</i>: Evidence from Multiple-Parallel Laboratory Evolution Experiments. [PDF]

Int J Mol Sci
Pattanakittivorakul S, Kato S, Kuga T, Kosaka T, Matsutani M, Murata M, Ishikawa M, Charoenpunthuwong K, Thanonkeo P, Yamada M.   +9 more
europepmc   +1 more source

Incorporating genetic load contributes to predicting Arabidopsis thaliana's response to climate change. [PDF]

Nat Commun
Jiang J, Chen JF, Li XT, Wang L, Mao JF, Wang BS, Guo YL.   +6 more
europepmc   +1 more source

Case report: neonatal cyanosis secondary to congenital methemoglobinemia, a cause to consider in newborn cyanosis. [PDF]

Transl Pediatr
Carmona-Nunez A, Adan Pedroso R, Arzuaga Mendez J, Alba Pavón P, López Herrera MC, Miguélez Velasco A, Ansó Olivan S, Astigarraga Aguirre I.   +7 more
europepmc   +1 more source

Identification of a novel nonsense mutation and a recurrent missense mutation in UROS gene in a patient with congenital erythropoietic porphyria. [PDF]

Front Genet
Jia N, Yimin Y, Li M, Jiang L, Liu Y.
europepmc   +1 more source