Results 81 to 90 of about 5,038 (139)

Biallelic Loss-of-Function Variant in <i>MINPP1</i> Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder. [PDF]

Int J Mol Sci
Al-Maraghi A, Shaath R, Ford K, Aamer W, AlRayahi J, Hussein S, Aliyev E, Agrebi N, Kohailan M, Hubrack SZ, Palaniswamy S, Kennedy AD, DeBalsi KL, Elsea SH, Benini R, Ben-Omran T, Lo B, Akil ASA, Fakhro KA.   +18 more
europepmc   +1 more source

A truncated CDC14A retains catalytic structure and phosphatase activity preserving male fertility but causes nonsyndromic deafness. [PDF]

J Biol Chem
Shabbir K, Jackisch G, Belyantseva IA, Imran M, Naz S, Sele C, Murina V, Knecht W, Friedman TB, Logan DT, Imtiaz A.   +10 more
europepmc   +1 more source

Tubular proteinuria due to hereditary endocytic receptor disorder of the proximal tubule: Dent disease and chronic benign proteinuria. [PDF]

Pediatr Nephrol
Sakakibara N, Nozu K.
europepmc   +1 more source

Clinical features and genetic analysis of nine Chinese children with Dent disease and identification of three novel <i>CLCN5</i> and <i>OCRL</i> variants. [PDF]

Ren Fail
Jiang X, Lin H, Zhu Q, Chen H, Huang Y, Huang XF, Wang D.   +6 more
europepmc   +1 more source

Effect of PGPRs on the Rhizosphere Microbial Community Structure and Yield of Silage Maize in Saline-Alkaline Fields. [PDF]

Int J Mol Sci
Zhao W, Li S, Yang W, Cui N, Lu X, Mo S, Guo Q, Ma P.   +7 more
europepmc   +1 more source

Activation of TP53 target genes in the primary response of triple-negative breast cancer cells to doxorubicin treatment. [PDF]

Sci Rep
Shekari A, Pazhang Y, Maadi H.
europepmc   +1 more source

Modeling, virtual screening, and enzymatic docking of trehalose 6-phosphate phosphatase and evaluation of the insecticidal effect of phthalimide, N-(p-tolylsulfonyl) on Aedes aegypti (Diptera: Culicidae). [PDF]

Pest Manag Sci
Lima RJV, Zanchi FB, Guimarães RMS, E Silva AA.   +3 more
europepmc   +1 more source

Roles in physiology and disease of the inositol phosphatase synaptojanin 1. [PDF]

Biochim Biophys Acta Mol Cell Biol Lipids
De Camilli P.
europepmc   +1 more source

Developmental and environmental effects on VTC2-dependent leaf ascorbate accumulation and functions. [PDF]

J Exp Bot
Kappel S, Frieboes MJ, Yokoyama R, Kappel C, Tóth SZ, Fernie AR, Jahns P, Smirnoff N, Aarabi F, Armbruster U.   +9 more
europepmc   +1 more source

The IRF2-INPP4B Pathway Aggravates Acute Myeloid Leukemia [PDF]

Turk J Haematol
Xing X, Zhang M, Tan S, Zhu J, Li J, Zhang P, Yuan Y, Wang M, Zhang F.   +8 more
europepmc   +1 more source