Results 291 to 300 of about 178,125 (345)

Unraveling the structure and function of a novel SegC protein interacting with the SegAB chromosome segregation complex in Archaea. [PDF]

Nucleic Acids Res
Lin MG, Yen CY, Shen YY, Huang YS, Ng IW, Barillà D, Sun YJ, Hsiao CD.   +7 more
europepmc   +1 more source

ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome

Developmental Medicine &Child Neurology, EarlyView.
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus has been implicated in a mitochondrial disorder characterized by prenatal or ...
Pauline Planté‐Bordeneuve, Claire‐Marine Bérat, Sylvain Hanein, Cyril Gitiaux, ATAD3 Study Group, Julie Steffann, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia, Brian Sperelakis‐Beedham, Zahra Assouline, Marie‐Thérèse Abi‐Warde, Rukhshona Abdullazoda, Agnès Guichet, Céline Bris, Aurélien Caux, Marlène Rio, Jérémy Bertrand, Pauline Gaignard, Alice Lepelley, Arnold Munnich, Manuel Schiff, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia   +26 more
wiley   +1 more source

Sgo1 interacts with CENP-A to guide accurate chromosome segregation in mitosis. [PDF]

J Mol Cell Biol
Wu F, Akbar H, Wang C, Yuan X, Dou Z, Mullen M, Niu L, Zhang L, Zang J, Wang Z, Yao X, Song X, Liu X.   +12 more
europepmc   +1 more source

Mesenchymal stem cell‐mediated mitochondrial transfer regulates the fate of B lymphocytes

European Journal of Clinical Investigation, EarlyView.
Mesenchymal stem cells (MSCs) modulate immune responses by transferring mitochondria to immune cells, including B lymphocytes. This study demonstrates that mitochondrial transfer to CD19+ cells is linked to reactive oxygen species levels, mitophagy and activation. Mitochondria acquisition enhances B cell viability and proliferation while downregulating
Veronika Somova, Natalie Jaborova, Bianka Porubska, Daniel Vasek, Natalie Fikarova, Martin Prevorovsky, Zuzana Nahacka, Jiri Neuzil, Magdalena Krulova   +8 more
wiley   +1 more source

Meiosis-specific functions of kinetochore protein SPC105R required for chromosome segregation in Drosophila oocytes. [PDF]

Mol Biol Cell
Joshi JN, Changela N, Mahal L, Jang J, Defosse T, Wang LI, Das A, Shapiro JG, McKim K.   +8 more
europepmc   +1 more source

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals

Epilepsia, EarlyView.
Abstract Objective A large proportion of pediatric epilepsies have an underlying genetic etiology. Limited studies have explored the efficacy of whole genome sequencing (WGS) in a clinical setting. Our academic–clinical center implemented clinical whole exome sequencing (WES) in 2014, then transitioned to WGS from 2015.
Olivia J. Henry, Sofia Ygberg, Michela Barbaro, Nicole Lesko, Leif Karlsson, Lucía Peña‐Pérez, Ann Båvner, Virpi Töhönen, Anna Lindstrand, Tommy Stödberg, Anna Wedell   +10 more
wiley   +1 more source

Acetylation of Rec8 cohesin complexes regulates reductional chromosome segregation in meiosis. [PDF]

Life Sci Alliance
Li Z, Liu Y, Jones AW, Watanabe Y.
europepmc   +1 more source

SCN9A should not be considered an epilepsy gene; Refuting a gene–disease association

Epilepsia, EarlyView.
Abstract Objective The SCN9A gene is primarily expressed in nociceptive pathways within the peripheral nervous system, and pathogenic variants are associated with human pain disorders. In recent years, several studies have proposed SCN9A as a monogenic cause of epilepsy.
Ismael Ghanty, Eduardo Perez‐Palma, Camilo Villaman, Daniel Stobo, Joseph Symonds, Sameer Zuberi, Dennis Lal, Andreas Brunklaus   +7 more
wiley   +1 more source

Aurora B promotes the CENP-T-CENP-W interaction to guide accurate chromosome segregation in mitosis. [PDF]

J Mol Cell Biol
Liu W, Dou Z, Wang C, Zhao G, Wu F, Wang C, Aikhionbare F, Ye M, Sedzro DM, Yang Z, Fu C, Wang Z, Gao X, Yao X, Song X, Liu X.   +15 more
europepmc   +1 more source

Recurrent c.‐11C>T change located upstream of the normal ATG initiation codon of ANKH causes self‐limited familial infantile epilepsy

Epilepsia, EarlyView.
Abstract Objective Pathogenic ANKH variants are a known cause of chondrocalcinosis (Online Mendelian Inheritance in Man [OMIM] #118600) and craniometaphyseal dysplasia (OMIM #123000). Here, we describe the phenotype and genotype of autosomal dominant infantile epilepsy caused by a c.‐11C>T change upstream of the gene's normal ATG initiation codon of ...
Josua Kegele, Hendrik Juenger, Harald Frantzmann, Dieter Gläser, Marc Sturm, Holger Lerche, Tobias B. Haack, Ingrid Bader   +7 more
wiley   +1 more source