Results 61 to 70 of about 5,996,346 (272)

A supernumerary marker chromosome originating from two different regions of chromosome 18

, 2000
By random amplification of a microdissected chromosome using the degenerate oligonucleotide primed polymerase chain reaction (DOP-PCR) and forward painting (microFISH), we characterised an extra structurally abnormal chromosome (ESAC) or supernumerary ...
Schinzel, Albert, Balmer, Damina, Röthlisberger, Benno, Chrzanowska, Krystyna, Riegel, Mariluce; https://orcid.org/   +4 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 concomitant familial small supernumerary marker chromosome derived from chromosome 4q (4q11.1–q13.2) and 5q13.2 microdeletion with no apparent phenotypic abnormality

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: We present prenatal diagnosis and molecular cytogenetic characterization of concomitant familial small supernumerary marker chromosome 4 [sSMC(4)] derived from 4q11.1–q12 and q13.2, and 5q13.2 microdeletion with no apparent phenotypic ...
Chih-Ping Chen, Schu-Rern Chern, Yen-Ni Chen, Shin-Wen Chen, Peih-Shan Wu, Chien-Wen Yang, Chen-Chi Lee, Meng-Shan Lee, Chen-Wen Pan, Wayseen Wang   +9 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

Impact of Microarray on Supernumerary Marker Chromosome and Global Developmental Delay

, 2021
Small supernumerary marker chromosomes (sSMCs) are structurally abnormal chromosomes that are equal in size or smaller than chromosome 20 and it can be recognised or characterised by conventional karyotype analysis.
Deepika Deka, Vatsla Dadhwal, Sumitra Bachani   +2 more
core   +1 more source

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

Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report

Molecular Cytogenetics, 2010
For the rapid detection of common aneuploidies either PCR or Fluorescence in situ hybridisation (FISH) on uncultured amniotic fluid cells are widely used.
Eckmann-Scholz Christel, Gesk Stefan, Nagel Inga, Haake Andrea, Bens Susanne, Heidemann Simone, Kautza Monika, Timke Christian, Siebert Reiner, Caliebe Almuth   +9 more
doaj   +1 more source

Genomic Structural Variations Provide Insights Into Litter Size and Teat Number Traits in Hu Sheep

Animal Research and One Health, EarlyView.
Here, we conducted whole genome sequencing on 300 Hu sheep with an average depth of 16.51X. Two candidate genes associated with litter size and teat number traits were identified, namely MAST2 and AFDN. ABSTRACT Litter size and the teat number are important economic indicators in sheep production.
Xin Xiang, Wei Dai, Jiqiang Liu, Zhengguang Wang   +3 more
wiley   +1 more source

Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization

Molecular Cytogenetics, 2019
Background Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders have been correlated with sSMC presence. The aim of this study is to characterize
Wafa Slimani, Hela Ben Khelifa, Sarra Dimassi, Fatma-Zohra Chioukh, Afef Jelloul, Molka Kammoun, Hanene Hannachi, Sarra Bouslah, Nesrine Jammali, Damien Sanlaville, Ali Saad, Soumaya Mougou-Zerelli   +11 more
doaj   +1 more source

Cumulative Reproductive‐Lactation Burdens Induce a Systemic Immunometabolic Trade‐Off Between Milk Yield and Mammary Health of Dairy Cows

Animal Research and One Health, EarlyView.
A population‐scale longitudinal transcriptomic atlas reveals how lactation stage and parity reshape systemic gene regulation in dairy cows. Multiomics‐inspired analyses uncover dynamic immune and metabolic adaptations that contribute to reproductive longevity and sustained productivity across the bovine lifespan.
Yangyang Shen, Zhenjiang An, Yingying Jiang, Zijian Huang, Kunlin Chen, Yundong Gao, Jianbin Li, Shuwen Xia, Huili Wang   +8 more
wiley   +1 more source