Results 71 to 80 of about 21,058 (168)

Sex-aware genome-wide assessment of de novo variants in autism across coding and noncoding regions. [PDF]

Hum Genomics
Turner TN.
europepmc   +1 more source

A novel case of autosomal recessive CARD11 loss-of-function underlying impaired antiviral immunity and a review of literature. [PDF]

Clin Transl Immunology
Anderson H, Verryt C, Keating P, Saunders T, Dalton S, Hock BD, Goddard L, Drake K, Werno A, O'Donnell J, Stinson JR, Snow AL, Hsiao KC.   +12 more
europepmc   +1 more source

Primary atopic disorders: Monogenic insights into immunity. [PDF]

J Hum Immun
Modi BP, McDonald C, Golding L, Da Silva LBR, Biggs CM, Körholz J, James EL, Turvey SE.   +7 more
europepmc   +1 more source

Mitochondrial-Localized Keratin 17 Promotes Chemoresistance in Basal-like Pancreatic Cancer. [PDF]

Cancer Res
Pan CH, Lyu Y, Ghosh M, Siraj MA, Tseng R, Chaika NV, Haley JD, Khalvatifahlylani B, Tuveson DA, Patel HD, Faruque M, Rajacharya GH, Donnelly KL, Leiton CV, Mejia Arbelaez CM, Chen H, Chowdhury S, Sarkar S, Delgado Coka L, Roa-Peña L, Horowitz M, Marchenko N, Singh PK, Shroyer KR, Escobar-Hoyos LF.   +24 more
europepmc   +1 more source

<i>NEK1</i> variants and reduced protein levels in Chinese ALS patients: a descriptive study. [PDF]

Front Aging Neurosci
Chen X, Mo Y, Jiang H.
europepmc   +1 more source

RecQ DNA helicases germline variants in Lynch-like syndrome. [PDF]

Genet Med Open
Giner-Calabuig M, De Leon S, Vidal-Pedrola G, Fehlmann TD, Ukaegbu C, Gibson J, Alustiza Fernandez M, Pico MD, Alenda C, Reyes J, Ortega SP, Obrador-Hevia A, Syngal S, Stoffel E, Ellis NA, Castillejo A, Soto JL, Jover R, Llor X, Xicola RM.   +19 more
europepmc   +1 more source

Neurotrophic Modulation Restores Motor and Developmental Defects in Zebrafish Models of ints11 Deficiency. [PDF]

J Neurochem
Pistocchi A, Chiricozzi E, Molteni M, Galassi G, Mauri L, Balistreri F, Magri S, Marozzi A, Taroni F, Pezzotta A.   +9 more
europepmc   +1 more source

Systematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODY. [PDF]

Diabetologia
Laver TW, Sriram A, Wakeling MN, Şiklar Z, Kobaisi F, Kalyon O, Hattersley AT, Weedon MN, Flanagan SE, De Franco E, Colclough K, Patel KA.   +11 more
europepmc   +1 more source

Germline BRCA2 mutations foster resistance to CDK4/6 inhibitors in breast cancer. [PDF]

NPJ Precis Oncol
Bolini L, Naulin F, Johnson N, Galluzzi L.   +3 more
europepmc   +1 more source