Results 271 to 280 of about 199,391 (364)

Growth Charts for Children With Beckwith–Wiedemann Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder caused by (epi)genetic alterations in chromosome 11p15. This study aimed to develop BWSp‐specific growth charts and explore genotype/phenotype correlations with respect to growth. Heights, weights, and head circumferences were retrospectively collected from 581 individuals with BWSp ...
Saskia M. Maas, Peter Lauffer, Guido Cocchi, Madison DeMarchis, Andrew M. George, Alessandro Mussa, Francesco Pellegrino, Alexander M. J. Spaans, Emma C. van den Brink, Jan M. Wit, Leonie A. Menke, Jennifer M. Kalish   +11 more
wiley   +1 more source

Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The cohesin complex plays crucial roles in DNA repair, chromatid separation, and gene transcription regulation. Pathogenic variants in cohesins or dysfunctional transcriptional regulators lead to cohesinopathies, a broader group of disorders including Cornelia de Lange Spectrum (CdLSp), for which the prevalence of cancer cases remains unclear.
Laura Rigotti, Stefano Rebellato, Antonella Lettieri, Silvia Castiglioni, Milena Mariani, Simona Totaro, Claudia Saitta, Cristina Gervasini, Grazia Fazio, Valentina Massa, Giovanni Cazzaniga, Angelo Selicorni   +11 more
wiley   +1 more source

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

A Transcriptome‐Wide Mendelian Randomization Study in Isolated Human Immune Cells Highlights Risk Genes Involved in Viral Infections and Potential Drug Repurposing Opportunities for Schizophrenia

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia is a neurodevelopmental psychiatric disorder characterized by symptoms of psychosis, thought disorder, and flattened affect. Immune mechanisms are associated with schizophrenia, though the precise nature of this relationship (causal, correlated, consequential) and the mechanisms involved are not fully understood.
David Stacey, Liam Gaziano, Preethi Eldi, Catherine Toben, Beben Benyamin, S. Hong Lee, Elina Hyppönen   +6 more
wiley   +1 more source

Mammalian E-type cyclins control chromosome pairing, telomere stability and CDK2 localization in male meiosis. [PDF]

PLoS Genet, 2014
Martinerie L, Manterola M, Chung SS, Panigrahi SK, Weisbach M, Vasileva A, Geng Y, Sicinski P, Wolgemuth DJ.   +8 more
europepmc   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Drosophila ring chromosomes interact with sisters and homologs to produce anaphase bridges in mitosis. [PDF]

Genetics
Lin HC, Golic MM, Hill HJ, Lemons KF, Vuong TT, Smith M, Golic F, Golic KG.   +7 more
europepmc   +1 more source

Tests for segregation distortion in tetraploid F1 populations. [PDF]

Theor Appl Genet
Gerard D, Thakkar M, Ferrão LFV.
europepmc   +1 more source

The tau isoform 1N4R confers vulnerability of MAPT knockout human iPSC‐derived neurons to amyloid beta and phosphorylated tau‐induced neuronal dysfunction

Alzheimer's &Dementia, EarlyView.
Abstract INTRODUCTION Human tau protein, composed of six brain‐specific isoforms, is a major driver of Alzheimer's disease (AD). The role of its isoforms however remains unclear and human AD models are scarce. METHODS We generated human MAPT– (tau–) knockout (KO) induced pluripotent stem cells (iPSC) using CRISPR/Cas9, differentiated these into ...
Sarah Buchholz, Mohamed Aghyad Al Kabbani, Michael Bell‐Simons, Lena Kluge, Cagla Cagmak, Jennifer Klimek, Natja Haag, Lukas C. Iohan, Audrey Coulon, Marcos R. Costa, Devrim Kilinc, Hans Zempel   +11 more
wiley   +1 more source

Light-controlled Spo11-less meiotic DNA breaks by MagTAQing lead to chromosomal aberrations. [PDF]

Nucleic Acids Res
Yone H, Kawashima Y, Hirai H, Oda AH, Sato M, Kono H, Ohta K.   +6 more
europepmc   +1 more source