Results 151 to 160 of about 15,020 (275)

Targeting PAR1 biased signaling with parmodulin reduces thromboinflammation and acute lung injury in sickle cell disease. [PDF]

Blood Adv
Ramadas N, Lowder K, Dutton J, Kazen RC, Sellers R, DeRousse JT, Dockendorff C, Sparkenbaugh EM.   +7 more
europepmc   +1 more source

Expanding African contributions to ClinVar through genetic counselor‐led variant curation

Journal of Genetic Counseling, Volume 35, Issue 3, June 2026.
Abstract Global variant databases such as ClinVar are vital in linking genetic variation to clinical significance and enabling shared interpretation across laboratories. However, African genetic variants remain underrepresented, comprising under 2% of global ClinVar submissions.
Nabeelah Peerbhai, Nolene Ramsunder, Tarin Europa, Jeannine Heckmann, Melissa Nel   +4 more
wiley   +1 more source

Somatic mosaicism in the δ-aminolevulinate dehydratase gene causing late-onset porphyria with erythroid-driven pathogenesis. [PDF]

Mol Genet Metab Rep
Vizerov T, Demina N, Ponomarev R, Lukina E, Pshenichnikova O, Selivanova D, Tabakov V, Ryzhkova O.   +7 more
europepmc   +1 more source

Acetate‐Linked Energy Metabolism as a Determinant of Early Haemophilus influenzae Infection Fitness

MicrobiologyOpen, Volume 15, Issue 3, June 2026.
The Pta–AckA pathway is critical for Haemophilus influenzae energy generation, metabolic homeostasis, stress resistance, and intracellular colonization, highlighting its potential as a target for management of H. influenzae infections.
Marufa Nasreen, Jennifer Hosmer, Saurab Kishore Munshi, Riya Joshi, Ayaho Yamamoto, Horst J. Schirra, Peter Sly, Alastair G. McEwan, Ulrike Kappler   +8 more
wiley   +1 more source

Pediatric primary ciliary dyskinesia with rare genetic variants: Synonymous RSPH4A and potential NFE2L2 modifier of DNAH9 phenotype - 2-case report. [PDF]

Medicine (Baltimore)
Guo C, Zhu Y, Lu H, Liu K.
europepmc   +1 more source

Localización de dos mutaciones termosensibles en replicación del bacteriófago PM2 en el mapa físico viral

, 1992
El genoma del bacteriofago PM2 està constituido de una molécula de DNA circular, doble hebra, sobreenrollada de 10,2 КЫ que se postula replica por el modelo de circulo rotatorio, descrito en otros sistemas tales como fagos de DNA simple hebra ØX 174,
Martínez Arenas, Jessica Isabel
core  

Biallelic Inactivation of NSD1 Associated With Carcinogenesis in Sotos Syndrome

Pediatric Blood &Cancer, Volume 73, Issue 6, June 2026.
Nicholas A. Borja, Anuja Sule, Katie Ann McMullen, Aditi Dhir, Matthew D. Hall, Heather J. McCrea, Sakir Humayun Gultekin, Mustafa Tekin, Bradley Gampel   +8 more
wiley   +1 more source

Treatment strategies, radiological recovery, and neurodevelopmental outcomes in paediatric Maple Syrup Urine Disease: a 20-year single-centre experience from Türkiye. [PDF]

Metab Brain Dis
Uylaş K, Yazıcı H, Altınok YA, Çelik MY, Karapınar FE, Özkaya PY, Isik E, Eraslan C, Canda E, Cogulu O, Karapınar B, Habif S, Çoker M, Uçar SK.   +13 more
europepmc   +1 more source

A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive disorder caused by pathogenic variants in the DHCR7 gene. Based on our observations and a review of the literature, we demonstrate that the NM_001360.2(DHCR7):c.89G>C p.(Gly30Ala) variant is associated with a mild SLOS phenotype.
Júlia Martinková, Emílie Vyhnálková, Martin Schwarz, Miroslava Balaščaková, Veronika Biddle, Romana Borská, Lenka Fajkusová, Lukáš Ryba, Anna Křepelová   +8 more
wiley   +1 more source

Mutation Spectrum of <i>ADAMTS13</i> Gene in Patients with Upshaw-Schulman Syndrome (USS) in Russia. [PDF]

Int J Mol Sci
Poznyakova J, Pshenichnikova O, Klebanova E, Galstyan G, Surin V.   +4 more
europepmc   +1 more source