Results 211 to 220 of about 80,852 (330)

Homozygosity Accumulated Through Genetic Drift and Inbreeding Underpins High Mutation Load in an Endangered Beluga Whale Population. [PDF]

Mol Ecol
Orton RW, Müller C, Garroway CJ, Ferguson SH, Michaud R, Frasier TR.   +5 more
europepmc   +1 more source

One‐Step Induction of Oogonia‐Like and Pro‐Spermatogonia‐Like Cells From Porcine Pluripotent Stem Cells

Advanced Science, EarlyView.
This study established a one‐step method inducing pro‐spermatogonia‐like (activating SOX17) and oogonia‐like (activating SOX17/TFAP2C) cells from porcine pgEpiSCs with a NANOS3‐tdTomato reporter. EGF activates the core PGC program and supports survival; BMP4 further induces NANOS3 and DDX4 expression; IWR1 enhances PGCLC efficiency by suppressing ...
Pengcheng He, Liang Zhong, Tianzhi Chen, Yaxuan Yan, Xinze Chen, Runbo Li, Yingjie Wang, Yadi Teng, Minglei Zhi, Meng Wang, Jinying Zhang, Fan Zhao, Dengfeng Gao, Suying Cao, Jianyong Han   +14 more
wiley   +1 more source

Genetic Testing Abnormalities in Children with Autism Spectrum Disorder: Prevalence, Patterns, and Clinical Associations. [PDF]

Neurol Int
Susarla V, George M, Rathinam A, Bhatti D.   +3 more
europepmc   +1 more source

The Presence and Percentage of Circulating Nucleated Red Blood Cells Reveal Distinct Characteristics in Adults With Sickle Cell Disease

American Journal of Hematology, EarlyView.
ABSTRACT Although circulating nucleated red blood cells (cNRBCs) have previously been detected in patients with sickle cell disease (SCD), their prevalence and clinical significance during steady‐state disease have not been established. We retrospectively analyzed 270 adults with an SS or Sβ0‐thalassemia genotype.
Ugo Boccadifuoco, Ivan Lerner, Auria Godard, Luc Darnige, Laure Joseph, Wassim El Nemer, Geoffrey Cheminet, Jean‐Benoit Arlet   +7 more
wiley   +1 more source

Utility of High-Throughput Genomic Analysis for Genetic Counseling in Large Family with Wilson Disease Carrying a Novel 28-bp <i>ATP7B</i> Splice-Junction Deletion. [PDF]

Diagnostics (Basel)
Hnoonual A, Pongborriboon D, Wansom N, Kietsiriroje N, Plong-On O, Limprasert P.   +5 more
europepmc   +1 more source

Chromosomal Abnormalities, Drug Sensitivity and Resistance in Hematological Malignancies: A Comprehensive Overview by the Francophone Group of Hematological Cytogenetics (GFCH)

American Journal of Hematology, EarlyView.
ABSTRACT Chromosomal abnormalities have a major clinical impact on hematological malignancies, particularly with regard to treatment strategies. To preserve and consolidate fundamental knowledge in this rapidly evolving field, the Francophone Group of Hematological Cytogenetics (Groupe Francophone de Cytogénétique Hématologique, GFCH) conducted a ...
Florence Nguyen‐Khac, Audrey Bidet, Elise Chapiro, Nathalie Douet‐Guilbert, Jean‐Baptiste Gaillard, Nada Assaf, Nathalie Auger, Hend Chaker, Jasmine Chauzeix, Inge Govaerts, Hippolyte Guérineau, Christine Lefebvre, Pauline Roynard, Hélène Guermouche, Lucienne Michaux, Marie‐Bérengère Troadec, Lauren Véronèse   +16 more
wiley   +1 more source

Impact of <i>FY*X</i> homozygosity of the DARC receptor on <i>Plasmodium knowlesi</i> line A1-H.1 invasion. [PDF]

Curr Res Parasitol Vector Borne Dis
Díaz-Delgado D, De Meulenaere K, Rosanas-Urgell A.   +2 more
europepmc   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Anti-amyloid therapy eligibility in a longitudinal brain-donor cohort with <i>post mortem</i> confirmation. [PDF]

Alzheimers Dement (Amst)
Haque M, Brookes KJ, Shao B.
europepmc   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source