Results 171 to 180 of about 186,243 (242)

COSA-1-SLX-4 interaction directly links crossover designation with Holliday junction resolution. [PDF]

Sci Adv
Liu G, Yang Y, Nan W, Xiao T, Guo Z, Zhang M, Wang Y, Wu X, Gartner A, Zhang H, Hong Y.   +10 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Interaction Between Rec8 and Mis4 Is Required for Axis-Loop Chromatin Formation and Homologous Chromosome Recombination During Meiosis. [PDF]

Genes Cells
Sakuno T, Murayama Y, Haraguchi T, Hiraoka Y.   +3 more
europepmc   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Recent advances in the detection technologies for balanced chromosomal rearrangements. [PDF]

Front Genet
Gao M, Ren J, Liu S.
europepmc   +1 more source

Polymer Concepts in Cellular Function

Advanced Science, EarlyView.
Miao Yu, Shikha Dhiman, Dorothee Dormann, Frauke Gräter, Katja Luck, Friederike Schmid, Andreas Walther, Edward A. Lemke   +7 more
wiley   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

A programmable platform enabling targeted chromosome substitution and cross-species stability profiling. [PDF]

Protein Cell
Shi L, Yang X, Wu M, Zhao C, Wu J, Zuo E.   +5 more
europepmc   +1 more source

Assessment of Genetic Correlations Between Tobacco or Alcohol Use and Neurodegenerative Diseases Using East Asian Genetic Ancestry Genome‐Wide Association Study Results

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Alzheimer's disease (AD) and Parkinson's disease (PD) are the most prevalent late‐onset neurodegenerative diseases worldwide. Both are influenced in part by genetic factors and are currently incurable. Tobacco and alcohol, the two most common substances used among the general adult population, are potential AD/PD risk factors and are also ...
Linda Wang, Wiame Belbellaj, Frida Lona‐Durazo, Sarah A. Gagliano Taliun   +3 more
wiley   +1 more source

An optimum rate of microtubule flux for error correction in metaphase spindle. [PDF]

Life Sci Alliance
Wang Y, Wang J, Liu YR, Wang PY, Xie P.
europepmc   +1 more source