Results 121 to 130 of about 103,612 (258)

Resolving a Complex Neonatal Phenotype by Rapid Trio Whole‐Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing‐Altering Synonymous ANK1 Variant

Journal of Clinical Laboratory Analysis, EarlyView.
Clinical utility of trio WGS and time metrics in a neonate with congenital anomalies and hemolytic anemia. ABSTRACT Background Neonates with complex and evolving phenotypes often lack sufficiently specific clinical features to guide targeted genetic testing.
Hyun‐Woo Lee, Ja‐Hyun Jang, Beom Hee Lee, Hee‐Jeong Youk, Eun Sun Kim, Kee Hyun Cho, Yun Sil Chang, Heui Seung Jo, Mi‐Ae Jang   +8 more
wiley   +1 more source

Calpain Proteases and the Evolving Signaling Network in Insect Embryonic Patterning

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
Insect embryonic Dorsal‐Ventral (DV) patterning relies on the BMP and Toll pathways to different extents. Calcium‐dependent cystein proteases of the Calpain family also exert an important function to pattern the DV axis. In Drosophila, Calpain A cleaves the Cactus/IkappaB inhibitor and modifies Toll signals in ventral regions of the embryo. In Rhodnius
Alison Julio, Helena Araujo
wiley   +1 more source

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 more
wiley   +1 more source

LPCAT3 as a Potential Drug Target for Ultraviolet Radiation–Induced Cataract: Insights From Multiomics Analysis

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Ultraviolet B (UVB) radiation is a major risk factor for cataract development, but the molecular mechanisms underlying this process, particularly the involvement of regulated cell death pathways such as ferroptosis, remain unclear. Transcriptomic, proteomic, and metabolomic analyses were performed on lens tissues from UVB‐induced cataract rat ...
Fei Xu, Xiao‐Bo Wan, Yong‐Shun Liang, Tian Lan, Hao Liang   +4 more
wiley   +1 more source

The Endocrine Disrupting Compounds Bisphenol‐A and α‐Zeranol Mimic the Estrogen Transcriptional Program to Promote Proliferation and Stemness in Breast Cancer Cells

Molecular Carcinogenesis, EarlyView.
ABSTRACT Excessive activation of the estrogen receptor (ER) drives proliferation, progression, and the formation of breast cancer stem cells (CSCs) in ER‐positive breast cancer. Estrogenic endocrine disrupting compounds (EDCs) found in plastics, water, and food are also able to bind to the ER.
Cassandra Winz, Eric Li, Caroline Xie, Kyo Chang Lee, Kevin Boguszewski, Shlok Rohatagi, Rita Hahn, Ray Rancourt, Philip Furmanski, Nanjoo Suh   +9 more
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer, Oswaldo Lorenzo‐Betancor, Dong‐Hui Chen, Kimmy Su, Marika Bogdani, Anna J. Park, Minsuh Kim, Joshua Weiss, Malia Callier, Ella H. Chiu, Sarah Fish, Jennifer L. Witt, Wendy H. Raskind, Marie Y. Davis, C. Dirk Keene, Cyrus P. Zabetian   +15 more
wiley   +1 more source

Prenatal Screening Via cfDNA – Paired‐End Sequencing Utilizing Fragment Size Information Reduces the Screen Positive Rate for X Chromosome Aneuploidies

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal cfDNA screening has transformed care, yet it remains difficult to determine whether X aneuploidy signals originate from the patient or fetus, inflating screen positive and false positive rates. One potential solution is to incorporate fragment size data from paired‐end sequencing (PES).
Susan Hancock, Franchesca Liao, Theresa Boomer, Sung Kim, Eileen de Feo   +4 more
wiley   +1 more source

Ensuring fidelity of chromosome segregation

Molecular Biology of the Cell, 2018
Ünal, Elçin, Torres, Jorge Z
openaire   +4 more sources

Transcriptomic stress responses in Vaccinium spp. F1 hybrids: Implications for temperature‐resilient cranberry breeding using a crop wild relative

PLANTS, PEOPLE, PLANET, EarlyView.
Climate extremes threaten the sustainability of cranberry production, a culturally and economically important North American crop. This study demonstrates that wild cranberries (Vaccinium oxycoccos) harbor genetic variation that may enhance cold stress resilience when introduced into cultivated cranberry through hybridization.
Audrey Dickinson, Jackson Kubal, Nicholas Allsing, Emily Murray, Todd P. Michael, James J. Polashock   +5 more
wiley   +1 more source