Results 101 to 110 of about 154,476 (163)

A pathogenic titin missense mutation in hiPSC-derived cardiomyocytes predisposes to ventricular fibrillation in acute ST-segment elevation myocardial infarction. [PDF]

Front Cardiovasc Med
Ji YY, Wu Y, Sun J, Lin XX, Chen XM, Ji CC, Liu LJ, Cheng YJ, Wu SH.   +8 more
europepmc   +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

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

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

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

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

A unique case of late-onset CIPO caused by a missense mutation in the long isoform of <i>FLNA</i>. [PDF]

Front Genet
D'Amato I, Ganguzza E, Basilisco G, Strippoli A, Salvi E, Mehmeti E, Chiappori F, Devigili G, Vecchi M, Lauria G, Marchi M.   +10 more
europepmc   +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

Spontaneous ovarian hyperstimulation in a nonpregnant woman with PCOS: a rare case highlighting FMN2 missense mutation and androgen receptor gene deletion. [PDF]

J Ovarian Res
Ota K, Takahashi T, Nitta E, Watanabe K, Isayama K, Morimoto Y, Tsuji K, Matsuyama Y, Matsuyama T, Ota Y, Kanenishi K, Mizukami Y, Shimoya K.   +12 more
europepmc   +1 more source

A PKCη missense mutation enhances Golgi-localized signaling and is associated with recessively inherited familial Alzheimer's disease. [PDF]

Sci Signal
Gauron MC, Prokopenko D, Lee S, Wolfe SA, Hecker J, Willett J, Waqas M, Lordén G, Yang Y, Mayfield JE, Castanho I, Mullin K, Morgan S, Hahn G, Demeo DL, Hide W, Bertram L, Lange C, Newton AC, Tanzi RE.   +19 more
europepmc   +1 more source