Results 91 to 100 of about 154,476 (163)

A missense mutation in acyl-CoA synthetase ACSL4 reveals essential residues for catalytic activity in ferroptosis. [PDF]

J Biol Chem
Sei H, Ando H, Nakashima F, Takahara T, Kita M, Yamada KI, Uchida K, Shibata T.   +7 more
europepmc   +1 more source

CARE-compliant case report: Nemaline myopathy caused by the ACTA1 p.Q139H missense mutation. [PDF]

Medicine (Baltimore)
Pei X, Zhai Y, Yang F, Lu W.
europepmc   +1 more source

A missense mutation in the bovine <i>NPBWR2</i> gene introgressed from <i>Bos javanicus</i> into Chinese indicine cattle. [PDF]

Anim Biotechnol
Tian Y, Zhang Z, Hanif Q, Li F, Zhang J, Arslan AM, Lei C, Huang B, Chen N.   +8 more
europepmc   +1 more source

A recessive coat color dilution in Dexter cattle attributed to a missense mutation in SLC45A2. [PDF]

Anim Genet
Fuller AM, Davidson C, Petersen JL.
europepmc   +1 more source

Phenotypic impact on coat color and uterine development in mice carrying a missense mutation associated with bovine White Heifer Disease. [PDF]

J Vet Med Sci
Wu Y, Sekiguchi M, Nakadaira Y, Ishiyama D, Magata F, Fujii W, Kyuwa S, Matsuda F, Kakuta S.   +8 more
europepmc   +1 more source

Long QT interval syndrome type 2 caused by a new missense mutation of KCNH2 gene: A case report. [PDF]

Medicine (Baltimore)
Ma Y, Wang L, Wu S, Peng C.
europepmc   +1 more source

A Challenging Case of Hypercalcemia Caused by a Novel Homozygous Variant Missense Mutation in the <i>CYP24A1</i> Gene. [PDF]

JCEM Case Rep
Ahsan T, Yahya M, Dilawar H, Kumar A, Siddiqui R.   +4 more
europepmc   +1 more source

Myocardin's Missense Mutation

Journal of Biological Chemistry, 2008
openaire   +1 more source

A missense mutation in Muc2 promotes gut microbiome and metabolome-dependent colitis-associated tumorigenesis. [PDF]

J Clin Invest
Verna G, De Santis S, Islam BN, Sommella EM, Licastro D, Zhang L, De Almeida Celio F, Miller EN, Merciai F, Caponigro V, Xin W, Campiglia P, Pizarro TT, Chieppa M, Cominelli F.   +14 more
europepmc   +1 more source

Correction: APR-246 induces apoptosis and enhances chemo-sensitivity via activation of ROS and TAp73-Noxa signal in oesophageal squamous cell cancer with TP53 missense mutation. [PDF]

Br J Cancer
Kobayashi T, Makino T, Yamashita K, Saito T, Tanaka K, Takahashi T, Kurokawa Y, Yamasaki M, Nakajima K, Morii E, Eguchi H, Doki Y.   +11 more
europepmc   +1 more source