Results 121 to 130 of about 616,821 (255)

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Sod1 deficiency in mouse oocytes during in vitro maturation increases chromosome segregation errors with a reduced BUBR1 at kinetochore

Reproductive Medicine and Biology
Purpose This study aimed to investigate the molecular mechanisms associated with chromosome segregation errors caused by intrinsic oxidative stress during in vitro oocyte maturation (IVM) using oocytes from Sod1‐deficient (Sod1KO) mice.
Mitsuru Nago, Masumi Yanai, Mika Ishii, Yasuko Sato, Kazuharu Odajima, Naoko Kimura   +5 more
doaj   +1 more source

COMMENT ON “A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION”

İstanbul Tıp Fakültesi Dergisi
Dear Editor, We have read the article entitled “A partial trisomy 9 case with dicentric chromosome due to the adjacent-2 segregation of maternal reciprocal translocation” by Urtekin et al.
Juan Pablo Meza-espınoza, Verónica Judith Pıcos-cárdenas, Evelia Leal-ugarte   +2 more
doaj   +1 more source

Progressive segregation of the Escherichia coli chromosome

, 2006
We have followed the fate of 14 different loci around the Escherichia coli chromosome in living cells at slow growth rate using a highly efficient labelling system and automated measurements.
Yongfang Li, Austin, Stuart, Stuart Austin, Henrik J. Nielsen, Brenda Youngren, Hansen, Flemming G., Flemming G. Hansen, Youngren, Brenda, Nielsen, Henrik Jørck   +8 more
core   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Acetylation of Rec8 cohesin complexes regulates reductional chromosome segregation in meiosis

Life Science Alliance
Meikin-dependent acetylation of Rec8 cohesin complexes at centromeres cooperates with the canonical cohesin acetylation to establish reductional chromosome segregation in meiosis in fission yeast.
Ziqiang Li, Yu Liu, Andrew W Jones, Yoshinori Watanabe   +3 more
doaj   +1 more source

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

Cumulative Reproductive‐Lactation Burdens Induce a Systemic Immunometabolic Trade‐Off Between Milk Yield and Mammary Health of Dairy Cows

Animal Research and One Health, EarlyView.
A population‐scale longitudinal transcriptomic atlas reveals how lactation stage and parity reshape systemic gene regulation in dairy cows. Multiomics‐inspired analyses uncover dynamic immune and metabolic adaptations that contribute to reproductive longevity and sustained productivity across the bovine lifespan.
Yangyang Shen, Zhenjiang An, Yingying Jiang, Zijian Huang, Kunlin Chen, Yundong Gao, Jianbin Li, Shuwen Xia, Huili Wang   +8 more
wiley   +1 more source

Bacterial chromosome segregation. [PDF]

, 2005
In most bacteria two vital processes of the cell cycle: DNA replication and chromosome segregation overlap temporally. The action of replication machinery in a fixed location in the cell leads to the duplication of oriC regions, their rapid separation to
Jagura-Burdzy, Grażyna, Bartosik, Aneta
core  

Type I Interferon Drives Dysfunction of a Distinct CD8+ HLA‐DRB1+ T Cell Subset in Systemic Lupus Erythematosus

Arthritis &Rheumatology, EarlyView.
Objective Systemic lupus erythematosus (SLE) is characterized by type I interferon (IFN) signaling and adaptive immune dysregulation. We previously identified hypomethylation of HLA‐DRB1 and STAT1 in SLE CD8+ T cells, enabling aberrant IFN‐driven HLA‐DRB1 expression and expansion of a distinct CD8+ T cell subset. This study characterized CD8+ HLA‐DRB1+
Huizhong Long, Elio Carmona, Mikhail G. Dozmorov, Amr H. Sawalha   +3 more
wiley   +1 more source