Results 201 to 210 of about 255,773 (233)

First combined analysis of <i>SMN1</i>, <i>SMN2</i>, and <i>NAIP</i> copy numbers in Moroccan SMA patients and their correlation with disease severity. [PDF]

Mol Genet Metab Rep
Nmer S, Trhanint S, Sayel H, Chaouki S, Bouguenouch L, Ouldim K.   +5 more
europepmc   +1 more source

H2S‐Releasing Aspirin Nanoparticles Alleviate Endometriosis and Associated Anxiety

Advanced Science, EarlyView.
Albumin nanoparticles loaded with an H2S‐releasing aspirin derivative (ACS14) hitchhiking neutrophils after intraperitoneal injection and preferentially accumulate in endometriosis lesions in mice. The treatment suppresses lesion growth by regulating PI3K/Akt and reduces inflammation by inhibiting NF‐κB.
Mengni Zhou, Renbin Dou, Rong Wu, Yunyu Xu, Ying Wang, Peng Wang, Jinfu Li, Pengcheng Lu, Yu Mao, Jieying Qian, Yunjiao Zhang, Jiqian Zhang, Shasha Zhu   +12 more
wiley   +1 more source

<i>LILRB1</i> and <i>LILRB2</i> genomics and transcriptomics in macaque and baboon species: polymorphism, diversification, and extensive alternative splicing. [PDF]

Front Immunol
de Groot NG, de Groot N, Heijmans CMC, de Vos-Rouweler AJM, van der Wiel MKH, Bruijnesteijn J.   +5 more
europepmc   +1 more source

Glutamine Deprivation Triggers Tribbles Homolog 3 Dependent G‐Quadruplex Resolution to Maintain DNA Repair and Tumor Survival

Advanced Science, EarlyView.
Glutamine deprivation triggers transient DNA damage yet activates adaptive repair in hepatocellular carcinoma cells. We identify TRIB3 as a stress‐induced nuclear scaffold that associates with DDX5 and G‐quadruplex DNA atBRCA1 andRAD51AP1 promoters. TRIB3 loss increases G4 accumulation, suppresses HR gene transcription, elevates γ‐H2A.X, and sensitizes
Qiang Ji, Xuedan Sun, Zhangran Sun, Mengfan Li, Xinyu Cheng, Shuai Tian, Rick F. Thorne, Jinming Li, Guangzhi Liu, Mian Wu, Xiaoying Liu   +10 more
wiley   +1 more source

Analyses of <i>ATP7B</i> mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics. [PDF]

Hum Mutat
Steiner Mrázová L, Vrbacká A, Majer F, Stránecký V, Nosková L, Záhoráková D, Májovská J, Bitar I, Klempíř J, Šaligová J, Majlingová S, Giertlová M, Drenčáková P, Harvanová D, Solařová P, Brůha R, Dušek P, Kmoch S, Sikora J, Jedličková I.   +19 more
europepmc   +1 more source

Genotype-phenotype correlations in PSACH/EDM1 patients with <i>COMP</i> gene variants: a comprehensive review of 830 cases. [PDF]

Front Endocrinol (Lausanne)
Ni X, Wei L, Xia W, Wu D.
europepmc   +1 more source

Clinical variation in Lowe syndrome: what and how? [PDF]

Front Cell Dev Biol
Brewer ED.
europepmc   +1 more source

Unexpectedly high levels of normally spliced transcripts from the pathogenic SLC10A7 alleles in a recessive form of skeletal dysplasia. [PDF]

HGG Adv
Zhao XC, Zhang ZC, Ye WL, Ye YY, Wang LT, Zheng XQ, Chang YB, Chen C.   +7 more
europepmc   +1 more source

A novel heterozygous pathogenic variation in the <i>MECP2</i> gene causing typical Rett syndrome: a case report. [PDF]

Transl Pediatr
Zheng Y, Yang Y, He L, Chen H, Wang D, Chen Y.   +5 more
europepmc   +1 more source

Prognostic impact of TP53 mutations in diffuse large B-cell lymphoma. [PDF]

Ann Hematol
Yu J, He Q, Yan Y, Liu K, Xie R, Ma J, Wang L.   +6 more
europepmc   +1 more source