Results 101 to 110 of about 718 (127)

A zebrafish gephyrinb mutant distinguishes synaptic and enzymatic functions of Gephyrin. [PDF]

Neural Dev
Brennan EJ, Monk KR, Li J.
europepmc   +1 more source

Effective energy harvesting of Yak by regulating the glucose and lipid metabolism in liver to adapt to the plateau environment. [PDF]

Sci Rep
Ma J, Song N, Huang N, Rong Z, Li J, Wang S, Zhang X, Wei Q, Chen J.   +8 more
europepmc   +1 more source

<i>DAAM2</i> gene variants p.(Asp165Glu) and p.(Asn614ThrfsTer2) in pediatric cryptorchidism: a hypothesis-generating pilot case-control study from the Eastern Black Sea region of Türkiye. [PDF]

Turk J Med Sci
Yalçin O, Doğan Ç.
europepmc   +1 more source

Genetics of epilepsy. [PDF]

Exp Biol Med (Maywood)
Piacentini K, Gaitatzis A, Kõks S.
europepmc   +1 more source

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study. [PDF]

Int J Mol Sci
Cavirani B, Spagnoli C, Caraffi SG, Cavalli A, Cesaroni CA, Cutillo G, De Giorgis V, Frattini D, Marchetti GB, Masnada S, Peron A, Rizzi S, Varesio C, Spaccini L, Vignoli A, Canevini MP, Veggiotti P, Garavelli L, Fusco C.   +18 more
europepmc   +1 more source

Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports. [PDF]

Genet Med Open
Ferreira EA, Hofstede FC, Haijes-Siepel HA, Lichtenbelt KD, Pistorius L, de Sain-van der Velden MGM, Nikkels PGJ, Lequin MH, de Vries LS, van der Crabben SN, van Hasselt PM.   +10 more
europepmc   +1 more source

Viperin-like proteins interfere with RNA viruses in plants. [PDF]

Front Plant Sci
Kamel R, Aman R, Mahfouz MM.
europepmc   +1 more source

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase

Human Genetics, 2005
Molybdenum cofactor deficiency (MIM#252150) is a severe autosomal- recessive disorder with a devastating outcome. The cofactor is the product of a complex biosynthetic pathway involving four different genes (MOCS1, MOCS2, MOCS3 and GEPH).
Silke Leimkühler, Fernando Scaglia, Claude Dorche   +2 more
exaly   +3 more sources

Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH†

Human Mutation, 2003
Molybdenum cofactor deficiency in humans results in the loss of the activity of molybdoenzymes sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase.
Jean L Johnson
exaly   +2 more sources