Results 61 to 70 of about 1,309 (131)

Exome sequencing in fetuses with congenital diaphragmatic hernia in a nationwide cohort

Prenatal Diagnosis, Volume 44, Issue 11, Page 1288-1295, October 2024.
Abstract Objective To evaluate the diagnostic yield of exome sequencing (ES) in fetuses and neonates with prenatally detected congenital diaphragmatic hernia (CDH) and normal copy number variant (CNV) analysis. Methods We conducted a retrospective cohort study of prenatally diagnosed CDH cases seen between 2019 and 2022.
Katinka Weller, Dineke Westra, Nina C. J. Peters, Martina Wilke, Diane Van Opstal, Ilse Feenstra, Joris van Drongelen, Alex J. Eggink, Karin E. M. Diderich, Philip L. J. DeKoninck   +9 more
wiley   +1 more source

Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier–Gorlin syndrome variant

Clinical Genetics, Volume 106, Issue 3, Page 342-346, September 2024.
We describe the phenotypes of an individual expressing a new variant of the DNA replication protein GINS3 (Ile25Phe) and displaying features suggestive of Meier–Gorlin Syndrome. Modification of the corresponding residue in yeast Psf3 revealed partial loss of function of this variant in vivo, allowing us to upgrade its classification.
Yosra Mehrjoo, Philippe M. Campeau, Lama Al Abdi, Abdullah Aldowaish, Omar Abouyousef, Fowzan S. Alkuraya, Marta Codina‐Solà, Anna M. Cueto‐González, Hugo Wurtele   +8 more
wiley   +1 more source

Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management

Birth Defects Research, Volume 116, Issue 7, July 2024.
Abstract Background Chromatinopathies are a heterogeneous group of genetic disorders caused by pathogenic variants in genes coding for chromatin state balance proteins. Remarkably, many of these syndromes present unbalanced postnatal growth, both under‐ and over‐, although little has been described in the literature.
Laura Avagliano, Silvia Castiglioni, Antonella Lettieri, Chiara Parodi, Elisabetta Di Fede, Esi Taci, Paolo Grazioli, Elisa Adele Colombo, Cristina Gervasini, Valentina Massa   +9 more
wiley   +1 more source

Decreased Tiam1‐mediated Rac1 activation is responsible for impaired directional persistence of chondrocyte migration in microtia

Journal of Cellular and Molecular Medicine, Volume 28, Issue 11, June 2024.
Abstract The human auricle has a complex structure, and microtia is a congenital malformation characterized by decreased size and loss of elaborate structure in the affected ear with a high incidence. Our previous studies suggest that inadequate cell migration is the primary cytological basis for the pathogenesis of microtia, however, the underlying ...
Yi Wu, Wei Liu, Jia Li, Hang Shi, Shize Ma, Di Wang, Bo Pan, Ran Xiao, Haiyue Jiang, Xia Liu   +9 more
wiley   +1 more source

Identification and prioritization of candidate genes for symptom variability in breast cancer survivors based on disease characteristics at the cellular level

Breast Cancer: Targets and Therapy, 2016
Theresa A Koleck,1 Yvette P Conley2 1School of Nursing, 2Department of Human Genetics, School of Nursing and Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA Abstract: Research is beginning to suggest that the presence and/
Koleck TA, Conley YP
doaj  

Whole exome sequencing of an Algerian Parkinson’s disease cohort: an exploratory study identifying rare variants in putative candidate genes

Egyptian Journal of Medical Human Genetics
Background Parkinson’s disease (PD), a complex neurodegenerative disorder, is increasingly prevalent, with a strong genetic component. While environmental factors contribute, the exact cause remains elusive.
Feriel Sellali, Amina Belhadj, Noria Bouras, Houssem Chelghoum, Selma Ouadj, Mohamed Sofiane Bouchetara, Omar Kharoubi, Tewfik Sahraoui   +7 more
doaj   +1 more source

An exploratory study of host polymorphisms in genes that clinically characterize breast cancer tumors and pretreatment cognitive performance in breast cancer survivors

Breast Cancer: Targets and Therapy, 2017
Theresa A Koleck,1,2 Catherine M Bender,1 Beth Z Clark,3,4 Christopher M Ryan,5,6 Puja Ghotkar,1 Adam Brufsky,4,7,8 Priscilla F McAuliffe,4,8,9 Priya Rastogi,4,7 Susan M Sereika,1,10,11 Yvette P Conley,1,12 1School of Nursing, University of Pittsburgh ...
Koleck TA, Bender CM, Clark BZ, Ryan CM, Ghotkar P, Brufsky A, McAuliffe PF, Rastogi P, Sereika SM, Conley YP   +9 more
doaj  

Unexpected Molecular Mechanism of Orc6-Based Meier-Gorlin Syndrome: Insights from a Humanized Drosophila Model

GENETICS
Abstract Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by microtia, primordial dwarfism, and skeletal abnormalities. Patients with MGS often carry mutations in genes encoding the subunits of the Origin Recognition Complex (ORC), components of the pre-replicative complex and ...
Maxim Balasov, Katarina Akhmetova, Igor Chesnokov   +2 more
openaire   +2 more sources

DNA-damage dependent interaction of Orc6 to SMARCA1 in S-phase modulates chromatin remodeling

Nucleic Acids Research
Abstract The human Origin Recognition Complex subunit 6 has recently garnered significant attention. The loss of human Orc6 doesn’t impact MCM loading in vivo, while in vitro reconstitution experiments have demonstrated that MCM loading can occur without Orc6, though could be stimulated upon the addition of Orc6.
Dazhen Liu, Mohit Mishra, Youyang Wang, Humayra Oishi, Aneek Mirza, Iman Fatimah Mohajir, Neha Chetlangia, Jay Sonalkar, Yo-Chuen Lin, Kannanganattu V Prasanth, Supriya G Prasanth   +10 more
openaire   +1 more source

METTL3/IGF2BP3 mediates ORC6 via N6-methyladenosine modification to promote the progression of pancreatic ductal adenocarcinoma

Gene
Pancreatic ductal adenocarcinoma (PDAC) is recognized globally as one of the most lethal tumours, and effective biomarkers to diagnose PDAC early are needed. ORC6, a subunit of the origin recognition complex (ORC), initiates DNA replication and ensures genomic stability.
Yang Shi, Junwei Liu, Qian Cheng, Shuaihui Wu, Wenjing Song, Kunlei Wang, Zhinan Chen, Xinyin Li, Qifeng Wei, Dilinigeer Tayier, Bo Liao, Zhiyong Yang   +11 more
openaire   +2 more sources