Results 141 to 150 of about 90,557 (301)

Male Hypogonadism and Germ Cell Loss Caused by a Mutation in Polo-Like Kinase 4

, 2011
The genetic etiologies of male infertility remain largely unknown. To identify genes potentially involved in spermatogenesis and male infertility, we performed genome-wide mutagenesis in mice with N-ethyl-N-nitrosourea and identified a line with dominant
Rebecca M. Harris, Jeffrey Weiss, J. Larry Jameson   +2 more
core   +1 more source

CDKN2A germ-line mutations in individuals with multiple cutaneous melanomas

, 2000
Germ-line CDKN2A mutations are present in some kindreds with hereditary cutaneous melanoma, and in Sweden a founder mutation with an extra arginine in codon 113 (113insR) has been identified. We screened 80 individuals with at least two primary cutaneous
Ueno, T, Stierner, Ulrika,, Ringborg, U, Hashemi, J, Platz, A, Hansson, J   +5 more
core  

The Role of miRNAs in Chicken Immune Regulation and Prospects for Disease‐Resistant Breeding

Animal Research and One Health, EarlyView.
A schematic workflow illustrating the screening of disease‐resistant miRNAs and the generation of miRNA‐based disease‐resistant chickens via PGC‐mediated germline genome editing. ABSTRACT MicroRNAs (miRNAs) are emerging as pivotal regulators of the immune system, playing a decisive role in shaping disease resistance in chicken.
Qiangzhou Wang, Weiran Wu, Qingqing Cai, Jiaxing Wang, Qi Gao, Muhammad Iftikhar, Yulin Bi, Hao Bai, Lihong Gu, Guobin Chang, Shihao Chen   +10 more
wiley   +1 more source

CRISPR-Cas9 genome editing in the parental iPSC line PCIi033-A to introduce the homozygous mutation p.F508del (c.1521_1523del) in the CFTR gene

Stem Cell Research
Cystic Fibrosis (CF) is an autosomal recessive disease caused by mutations in the CFTR gene. Patients carrying the most common mutation, p.F508del, benefit from the triple therapy Kaftrio®. We genome-edited the commercially available iPSC line PCIi033-A (
Benjamin Simonneau, Sandrine Baghdoyan, Michel Cailleret, Stéphanie Simon, Odile Ruckebusch, Barbora Vrablikova, Karine Giraud-Triboult, Lina El Kassar, Pascale Fanen, Bénédicte Duriez   +9 more
doaj   +1 more source

Integrating One Health to Mitigate the Emergence and Spread of Antimicrobial Resistance in Livestock and Aquaculture

Animal Research and One Health, EarlyView.
Antimicrobial resistance (AMR) is an escalating global threat driven by antimicrobial use in aquaculture and livestock. Resistant pathogens and genes can spread across humans, animals, and the environment through interconnected ecosystems. Using a One Health approach, this review emphasizes antimicrobial stewardship, regulatory strengthening, enhanced ...
Mir Mohammad Ali, Delower Hossain, Ridwan Olamilekan Adesola, Anum Hanif, Shamsaldeen Ibrahim Saeed, Muhammad Abdul Mannan, Anoar Jamai Masroure, Kazi Estieque Alam, Md Kamal Hossain, Sabiha Zarin Tasnim Bristi, Md Jisan Ahmed   +10 more
wiley   +1 more source

DNA (cytosine‐5)‐methyltransferase 3A (Dnmt3a) mutations limit normal and autoreactive CD4+ T follicular helper responses and attenuate T cell‐driven joint inflammation

Arthritis &Rheumatology, Accepted Article.
Objective Somatic DNMT3A mutations are the most common drivers of clonal hematopoiesis in patients with rheumatoid arthritis (RA) and have been associated with seropositive disease and increased inflammatory markers. These mutations are predominantly hypomorphic or dominant‐negative, reducing DNMT3A function.
Yunbing Shen, Sanjaykumar Boddul, Zhaojun Li, Zsolt Kasza, Marlene Schülein, Bruno Raposo, Karine Chemin, Per‐Johan Jakobsson, Alexander Espinosa, Lars Klareskog, Fredrik Wermeling   +10 more
wiley   +1 more source

Integrated Approach Reveals Role of Mitochondrial Germ-Line Mutation F18L in Respiratory Chain, Oxidative Alterations, Drug Sensitivity, and Patient Prognosis in Glioblastoma. [PDF]

Int J Mol Sci, 2019
Keatley K, Stromei-Cleroux S, Wiltshire T, Rajala N, Burton G, Holt WV, Littlewood DTJ, Briscoe AG, Jung J, Ashkan K, Heales SJ, Pilkington GJ, Meunier B, McGeehan JE, Hargreaves IP, McGeehan RE.   +15 more
europepmc   +1 more source

Ambient Air Pollution and Risk of Congenital Anomalies in England, 1991-99

, 2009
OBJECTIVES: To investigate whether there is an association between risk of congenital anomaly and annual ward level exposure to air pollution in England during the 1990s.
H Dolk, Wellesley, D, Vrijheid, M., Vrijheid, M, M Vrijheid, Abramsky, L, Wellesley, D., J Rankin, B Armstrong, Dolk, H, K Lachowycz, D Wellesley, Dolk, H., L Abramsky, Lachowycz, K., Boyd, PA, Lachowycz, K, Abramsky, L., Armstrong, B, P A Boyd, Rankin, J., Boyd, P, Boyd, P., Armstrong, B., Rankin, J   +24 more
core   +1 more source

Challenges and Pitfalls to Diagnosing NUTM1‐Rearranged Neoplasia of the Pancreas by Cytology and Ancillary Studies

Diagnostic Cytopathology, EarlyView.
ABSTRACT Fine‐needle aspiration cytology specimens are frequently utilized for ancillary studies to identify diagnostic and prognostic information. This case highlights diagnostic pitfalls and challenges in diagnosing NUTM1‐rearranged neoplasia on pancreatic cytology.
Terrance J. Lynn
wiley   +1 more source

RORγt‐APCs: The New Masters of Oral Tolerance

Barrier Immunity, EarlyView.
ABSTRACT Oral tolerance is defined by the hypo‐responsiveness of our body to fed antigens, and its failure can lead to immune‐mediated diseases, such as allergy, chronic inflammation and autoimmune diseases. Decades of research have demonstrated that antigen‐presenting cells (APCs) promote oral tolerance by inducing regulatory T cells (Tregs) and/or ...
Thierry Gauthier, WanJun Chen
wiley   +1 more source