Results 51 to 60 of about 270,506 (297)

A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3

Molecular Cytogenetics, 2021
Background Molecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome (BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions.
Huling Jiang, Zepeng Ping, Jianguo Wang, Xiaodan Liu, Yuxia Jin, Suping Li, Chiyan Zhou, Pinghua Huang, Yi Jin, Ling Ai, Jie Chen   +10 more
doaj   +1 more source

EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways

Advanced Science, EarlyView.
EFTUD2, a spliceosomal GTPase linked to MFDM, regulates cortical development through apoptotic control. Conditional Eftud2 knockout in murine neural stem cells induces microcephaly and cortical disorganization, while pathogenic variants drive neuronal loss.
Liping Chen, Ying Li, Yan Yu, Mingze Cai, Hao Li, Minghe Huang, Guochao Yang, Jiageng Guo, Huailin Wang, Zhihong Song, Wei Shen, Huihui Jiang, Haitao Wu   +12 more
wiley   +1 more source

Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review

Molecular Cytogenetics, 2021
Background Trisomy 19q is a recognizable syndrome and associated with a wide spectrum of clinical phenotypes in clinic. The purpose of this study was to explore the prenatal phenotypes of 19q13.42 duplication, which was rarely reported in clinic.
Xinyue Zhang, Fagui Yue, Qingyang Shi, Yuting Jiang, Jing He, Leilei Li, Ruizhi Liu   +6 more
doaj   +1 more source

PCSK9 Loss‐of‐Function Disrupts Cellular Microfilament Network via LIN28A/HES5/JMY Axis in Neural Tube Defects

Advanced Science, EarlyView.
PCSK9 acts as a molecular chaperone promoting LIN28A lysosomal degradation. LIN28A elevates transcription factor HES5, increasing JMY expression. PCSK9 loss causes neural tube defects (NTDs) by disrupting the LIN28A/HES5/JMY axis, and high JMY disorganizes the neural progenitor cell microfilament network, leading to incomplete neural tube structure in ...
Xiaoshuai Li, Rui Wang, Wenting Luo, Hui Gu, Tianchu Huang, Qiushi Wang, Zhengwei Yuan   +6 more
wiley   +1 more source

Patient Perception of Negative Non-Invasive Prenatal Testing Results [PDF]

, 2016
Non-invasive prenatal testing (NIPT) uses cell-free fetal DNA to assess for fetal aneuploidy during pregnancy. NIPT has higher detection rates and positive predictive values than previous methods; however, NIPT is not diagnostic. Studies suggest patients
Wittman, Ann Theresa
core   +2 more sources

Therapeutic Repair of Sperm Quality Decline Caused by Polytetrafluoroethylene

Advanced Science, EarlyView.
Exposure to PTFE (teflon), a commonly used microplastic in non‐stick cookware, significantly reduces sperm quality in both humans and mice. Specifically, PTFE induces the disruption of sperm cytoskeleton and F‐actin assembly through targeting SKAP2 in haploid spermatid.
Shiming Gan, Shumin Zhou, Jiaming Zhou, Guanghui Zhang, Jingshou Chen, Rui Liu, Kuan Sun, Sisi Li, Wenjing Xiong, Yujiao Wen, Jianzhong Sheng, Yu Zhang, Jingchao Ren, Youjiang Li, Hefeng Huang, Chen Zhang   +15 more
wiley   +1 more source

Unraveling Multimodal Brain Signatures: Deciphering Transdiagnostic Dimensions of Psychopathology in Adolescents

Advanced Intelligent Systems, EarlyView.
This study, utilizing two large‐cohort datasets, employs interpretable neural networks. It demonstrates that incorporating brain morphology and functional and structural networks enhances predictive accuracy for general psychopathology and its dimensions.
Jing Xia, Nanguang Chen, Anqi Qiu
wiley   +1 more source

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China

Molecular Cytogenetics, 2019
Background Several different technologies are used for prenatal screening procedures and genetic diagnostic technologies. We aimed to investigate the rates of chromosomal abnormalities in cases with different abnormal prenatal indications and to ...
Rulin Dai, Yang Yu, Qi Xi, Xiaonan Hu, Haibo Zhu, Ruizhi Liu, Ruixue Wang   +6 more
doaj   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source