Results 51 to 60 of about 874,608 (238)

Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing

Frontiers in Genetics, 2022
Tetrasomy 9p is a rare syndrome characterized by fetal growth restriction, Dandy-Walker malformation, cardiac anomalies, and facial abnormalities and is discovered by ultrasound during the prenatal examination.
Jialing Yu, Na Chen, Min Chen, Min Shen, Yeqing Qian, Minyue Dong, Minyue Dong, Minyue Dong   +7 more
doaj   +1 more source

DataSheet1_Small supernumerary marker chromosomes derived from human chromosome 11.docx

, 2023
Introduction: With only 39 reported cases in the literature, carriers of a small supernumerary marker chromosome (sSMC) derived from chromosome 11 represent an extremely rare cytogenomic condition.Methods: Herein, we present a review of reported sSMC(11),
Stefanie Kankel (4927897), Niklas Padutsch (7862360), Thomas Liehr (484), Luisa Person (17641032), Joana B. Melo (2327851), Monika Ziegler (4927882), Heather Williams (3255408), Jörg Paul Weimer (17641035), Anja Weise (252091), Susana Ferreira (773458), Isabel M. Carreira (1447957)   +10 more
core   +1 more source

Increased Disarray of Extracellular Matrix Collagen‐I Fiber Network and Compromised Biomechanics in Aortae From Marfan‐Syndrome Mice Assessed Through Combined Opto‐Biomechatronics

Advanced Science, EarlyView.
Combined structure‐function assessment in aortic rings from Marfan mice using MechaMorph Opto‐Biomechatronics technology relates increased elasticity (stiffness) and dynamic viscosity and less ordered extracellular matrix 3D‐structure (collagen) as potential causes for impaired Windkessel function and compromised haemodynamics in Marfan's syndrome ...
Dominik Schneidereit, Anika Nagel, Vanessa I. T. Zwaans, Laureen Schurr, Jonas Ahr, Michael Haug, Anna Piluso, Alexandra Sporkova, Matthias Karck, Andreas H. Wagner, Oliver Friedrich   +10 more
wiley   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from 2q11.1-q12.1 associated with fetal bilateral radial dysplasia

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from 2q11.1-q12.1 associated with fetal bilateral radial dysplasia.
Chih-Ping Chen, Chen-Ju Lin, Shin-Wen Chen, Fang-Tzu Wu, Schu-Rern Chern, Peih-Shan Wu, Yun-Yi Chen, Wen-Lin Chen, Wayseen Wang   +8 more
doaj   +1 more source

Engineered Transformer Base Editor with Enhanced Editing Efficiency

Advanced Science, EarlyView.
A highly efficient transformer base editor system achieves robust genomic editing in a humanized mouse model. This work establishes a versatile and translatable platform, opening new avenues for precision gene therapy. ABSTRACT Canonical cytosine base editors (CBEs) achieve precise C‐to‐T conversions without inducing DNA double‐strand breaks (DSBs ...
Bowen Chen, Letong Liang, Rui Xu, Tianyi Wang, Hongyan Chen, Daru Lu   +5 more
wiley   +1 more source

Structural Control of Stromal‐Immune Coupling by COL24A1 Underlies Pregnancy Maintenance

Advanced Science, EarlyView.
COL24A1 emerges as a collagen‐associated regulator of maternal‐fetal interface homeostasis. Its deficiency promotes a maladaptive TIMP1‐high stromal state, impaired ECM turnover, collagen accumulation, and stromal–immune dysregulation, contributing to pregnancy loss.
Teng Wu, Lingling Xie, Wenyi Liu, Hanjie Mo, Chengshu Xie, Jing Tang, Zhaorui Wang, Peixuan Lan, Jianping Zhang, Jie Gao, Qionglan Tang, Chunwei Cao, Hui Chen   +12 more
wiley   +1 more source

Chromosomal Abnormalities, Drug Sensitivity and Resistance in Hematological Malignancies: A Comprehensive Overview by the Francophone Group of Hematological Cytogenetics (GFCH)

American Journal of Hematology, EarlyView.
ABSTRACT Chromosomal abnormalities have a major clinical impact on hematological malignancies, particularly with regard to treatment strategies. To preserve and consolidate fundamental knowledge in this rapidly evolving field, the Francophone Group of Hematological Cytogenetics (Groupe Francophone de Cytogénétique Hématologique, GFCH) conducted a ...
Florence Nguyen‐Khac, Audrey Bidet, Elise Chapiro, Nathalie Douet‐Guilbert, Jean‐Baptiste Gaillard, Nada Assaf, Nathalie Auger, Hend Chaker, Jasmine Chauzeix, Inge Govaerts, Hippolyte Guérineau, Christine Lefebvre, Pauline Roynard, Hélène Guermouche, Lucienne Michaux, Marie‐Bérengère Troadec, Lauren Véronèse   +16 more
wiley   +1 more source

A Set of Duplicons on Human Chromosome 9 is Involved in the Origin of a Supernumerary Marker Chromosome [PDF]

, 2006
Human chromosome 9 is involved in a number of recurrent structural rearrangements; moreover, its pericentromeric region exhibits a remarkable evolutionary plasticity.
PAULIS, MARIANNA, MORALLI, DANIELA, BENSI, MIRELLA, RAIMONDI, ELENA MARIA, DE CARLI L.   +4 more
core   +2 more sources

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source