Results 181 to 190 of about 616,821 (255)

SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago

Movement Disorders, EarlyView.
Abstract Background SLC7A6OS c.191A>G is a rare, autosomal recessive cause of progressive myoclonus epilepsy (PME). The c.191A>G variant, first discovered in two families from Türkiye and Portugal, was recently identified in three additional probands from the USA, all of Puerto Rican ancestry.
Bronwyn E. Grinton, Colin A. Ellis, Mered Parnes, Laina Lusk Stripe, Jacob E. Munro, Laure Mazzola, Pamela P. McDonnell, Betül Baykan, Volkan Taşdemir, Mariam Hull, Krystal Sully, Sara Cabet, Anna‐Elina Lehesjoki, Nerses Bebek, Melanie Bahlo, Samuel F. Berkovic, Gaetan Lesca, Karen L. Oliver   +17 more
wiley   +1 more source

A non-transcriptional mitotic function of POU/Oct factors ensures spindle assembly and chromosome segregation. [PDF]

J Cell Sci
Gohel P, Tsarouhas V, Kansara L, Sajwan S, Engström Y.   +4 more
europepmc   +1 more source

Versatile NTP recognition and domain fusions expand the functional repertoire of the ParB-CTPase fold beyond chromosome segregation. [PDF]

Proc Natl Acad Sci U S A
Kaljević J, Sukhoverkov KV, Johnson KE, Hocher A, Le TBK.   +4 more
europepmc   +2 more sources

GCH1 p.Ser80Asn Confers Risk for Parkinson's Disease in East Asian Populations

Movement Disorders, EarlyView.
Abstract Introduction GCH1 has been implicated in Parkinson's disease (PD), but its risks variants and associations are not well defined. Objectives Our goal was to investigate the clinical relevance and PD risk associated with the GCH1 p.Ser80Asn variant.
Yi Wen Tay, Andrew Leslie Lee, Jie Ping Schee, Chin‐Hsien Lin, Eng King Tan, Jung Hwan Shin, Pin‐Shiuan Chen, Sung‐Pin Fan, Cheng‐Hsuan Li, Ebonne Yu Lin Ng, Han Joon Kim, Beomseok Jeon, Sulev Koks, Huyen Thi Thanh Vu, Kin Ying Mok, Yi Ting Lim, Mohd Salahuddin Kamaruddin, Tzi Shin Toh, Hans Xing Ding, Anis Nadhirah Khairul Anuar, Norlisah Ramli, Ignacio J. Keller Sarmiento, Maria Teresa Periñan, Zih‐Hua Fang, Lara M. Lange, Kishore R. Kumar, Soraya Bardien, Joanne Trinh, Enza Maria Valente, SG10K_Health Consortium, the Global Parkinson's Genetics Program (GP2), Peter Heutink, Katja Lohmann, Christine Klein, Niccolò E. Mencacci, Shen‐Yang Lim, Azlina Ahmad‐Annuar, Ai Huey Tan   +37 more
wiley   +1 more source

Chromosome segregation dynamics during the cell cycle of Staphylococcus aureus. [PDF]

Nat Commun
Izquierdo-Martinez A, Schäper S, Brito AD, Liao Q, Tesseur C, Sorg M, Botinas DS, Wang X, Pinho MG.   +8 more
europepmc   +1 more source

DnaK1‐mediated regulation of phototactic motility in Synechococcus elongatus UTEX 3055

mLife, EarlyView.
Abstract Cyanobacterial phototaxis relies on type IV pili (T4P); yet, how light signals are transmitted to the T4P motor remains unresolved. Here, we identify the molecular chaperone DnaK1 as an important regulator of phototactic motility in Synechococcus elongatus UTEX 3055.
Shang‐Yu Li, Qing‐Xue Sun, Dan‐Qing Huang, Tao Xie, Yan Yu, Chenliu He, Cesar A. Valades‐Cruz, Xiaoli Zeng, Yiling Yang, Cheng‐Cai Zhang   +9 more
wiley   +1 more source

Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice

Prenatal Diagnosis, EarlyView.
ABSTRACT International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently,
Eran Ashwal, David Chitayat
wiley   +1 more source

DnaA binding to oriCII regulates transcription from Pseudomonas aeruginosa gidAB-parAB locus linked to the chromosome segregation and streptomycin resistance. [PDF]

Sci Rep
Wawrzyniak P, Kawalek A, Szulc A, Glinkowska M, Jagura-Burdzy G, Bartosik AA.   +5 more
europepmc   +1 more source

From Isolated to Complex: Diagnostic Yield of Chromosomal Microarray and Exome Sequencing in Fetal Growth Restriction

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the overall diagnostic yield of sequential chromosomal microarray (CMA) and exome sequencing (ES) across the phenotypic spectrum of fetal growth restriction (FGR). Methods A retrospective cohort of 320 consecutive FGR pregnancies presenting at ≥ 20 weeks to a tertiary fetal medicine unit (2020–2025).
Hadas Miremberg, May Shabat, Maya Stok, Vered Offer Glasner, Adi Botvinik, Mordechai Shohat, Michal Levy, Yuval Yaron, Roee Birnbaum, Sharon Perlman, Gustavo Malinger, Karina Krajden Haratz   +11 more
wiley   +1 more source

CDK1-dependent N-terminal NuMA phosphorylation promotes dynein-dynactin-NuMA assembly for accurate chromosome segregation. [PDF]

Cell Rep
van Toorn M, Aslan M, Shintomi K, Yildiz A, Kiyomitsu T.   +4 more
europepmc   +1 more source