Results 171 to 180 of about 34,114 (259)

RAC2 orchestrates immune cell actin remodeling and migration. [PDF]

Front Immunol
Berthiaume Fox KA, Galvin ER, Gurtner GC, Chen K.   +3 more
europepmc   +1 more source

Co-occurrence of Loss-of-Function GCK and ABCC8 Variants in a Pedigree With a Spectrum of Dysglycemia. [PDF]

Diabetes
Saint-Martin C, ElSheikh A, Jacqueminet S, Arnoux JB, Ciangura C, Bellanné-Chantelot C, Shyng SL.   +6 more
europepmc   +1 more source

Neurocentric No More? Oligodendrocyte Dysfunction Supports Epileptogenesis. [PDF]

Epilepsy Curr
Miller-Oskolkoff GB, Patel MK.
europepmc   +1 more source

Functional and pharmacological characterization of the <i>SCN2A</i> variant p.C258R with mixed gain and loss of function causing developmental and epileptic encephalopathy type 11. [PDF]

Epilepsy Behav Rep
Köppel A, de Vries H, Jamili M, Stanke C, Brandl U, Leipold E, Heinemann SH.   +6 more
europepmc   +1 more source

Hp1bp3 loss links chromatin reorganization to metabolic vulnerability in glioma. [PDF]

Proc Natl Acad Sci U S A
Lozzi B, Gatesman TA, Dasgupta P, Sardar D, Ko Y, Mao C, Chen HC, Curry RN, Choi D, Mohila CA, Bondy ML, Rao G, Gallo M, Agnihotri S, Deneen B.   +14 more
europepmc   +1 more source

The effect of P2RX7 functional SNPs on osteoblast cell phenotype, function and signalling- roles in bone homeostasis and osteogenesis. [PDF]

Purinergic Signal
Tattersall L, Wang Q, Giuliani AL, Adinolfi E, Gartland A.   +4 more
europepmc   +1 more source

Accurate prediction of gain- and loss-of-function missense variants in GABA_A receptors. [PDF]

EBioMedicine
Boßelmann CM, Ortiz S, Dahl R, Liao VWY, El-Kamand S, Lin SXN, Hon Kan AS, Brünger T, Lal D, Lerche H, Kreuer J, Pfeifer N, Chebib M, Absalom NL, Ahring PK, Møller RS.   +15 more
europepmc   +1 more source

A novel prognostic biomarker combining <i>TP53</i> loss-of-function and amplification of different combinations of nine genes in lung squamous cell carcinoma treated with chemotherapy. [PDF]

Oncol Lett
Li Y, Hou T, Liu H, Du H, Qiu L, Zhang Y, Zhang G, Tang Y.   +7 more
europepmc   +1 more source

Population Decline, Inbreeding and Hybridization Shape the Genetic Vulnerability of a Critically Endangered Seabird. [PDF]

Mol Ecol
Chen G, Zheng C, Peng L, Lin H, Dong F, Li SH, Lu Y, Wang S, Fan Z, Fu Y, Ding P, Zhang J, Song G, Chen S, Liu Y.   +14 more
europepmc   +1 more source

Epilepsy-associated digenic variants affecting an actin/mitochondria/glutamate pathway promote seizure susceptibility. [PDF]

J Clin Invest
Lu S, Ma M, Hannan SB, Deng M, Chen H, Yu Z, Goodman LD, Kim H, Zhao Y, Dubey SK, Lin WW, Pan X, Dutta D, Cuddapah VA, Rosenfeld JA, Luo X, Liu Z, Shulman JM, Bellen HJ.   +18 more
europepmc   +1 more source