Results 101 to 110 of about 5,473 (268)

CRISPR‐Cas9‐Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel–Gruber Syndrome Phenotype

genesis, Volume 64, Issue 1, February 2026.
ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Yang Liu, Hui Wang, Liyuan Chen, Xiaoxia Wu, Zhiyong Xu, Qingfa Huang, Hu Zhang, Xiushu Cao, Xinyuan Liang, Xingjian Zhong, Caiqun Luo   +10 more
wiley   +1 more source

Maternal Parvovirus B19 Infection Causing First-Trimester Increased Nuchal Translucency and Fetal Hydrops

Case Reports in Obstetrics and Gynecology, 2019
This is a case report of a 31-year-old primigravida who was diagnosed with an asymptomatic acute parvovirus B19 infection in the second trimester of pregnancy and its suspected association with an increased nuchal translucency (NT) measurement ...
Olivia Grubman, Farrah Naz Hussain, Zoe Nelson, Lois Brustman   +3 more
doaj   +1 more source

A review of trisomy X (47,XXX)

Orphanet Journal of Rare Diseases, 2010
Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).
Sutherland Ashley, Howell Susan, Tartaglia Nicole R, Wilson Rebecca, Wilson Lennie   +4 more
doaj   +1 more source

Uniparental Disomy and Genome Imprinting: an Overview [PDF]

, 2017
The following paper is concerned with potential changes in the normal epigenetic process in a diploid individual, when a chromosome pair or segment is inherited from one parent only, instead of the expected biparental contribution.
Engel, E.
core  

A Novel Human Cellular System for Studying Normal Aging and for Anti‐Aging Discovery

Aging Cell, Volume 25, Issue 2, February 2026.
This study introduces a human cellular aging model using placental trophoblasts (hTSC‐STBs) that mimics key aging features like senescence and genomic instability. It aligns with human tissue aging and responds to anti‐aging treatments, offering a scalable platform to screen potential therapies and bridge lab findings to clinical applications ...
Zhen Feng, Cheuk Shuen Li, Haifeng Fu, Wenxin Jiang, Weiyu Zhang, Yingzhang Huang, Yunying Huang, Timothy Theodore Ka Ki Tam, Yang Li, Fang Liu, Liming Lu, Yin Lau Lee, William Shu Biu Yeung, Gordon Dougan, Pentao Liu   +14 more
wiley   +1 more source

Os macrófagos na placenta durante o trabalho de parto The macrophages in the placenta during labor

Revista Brasileira de Ginecologia e Obstetrícia, 2009
OBJETIVO: verificar a quantidade de células CD68+ no estroma das vilosidades coriônicas na placenta de gestações submetidas ou não ao trabalho de parto. MÉTODOS: estudo transversal, com gestantes saudáveis a termo, das quais 31 placentas foram examinadas
Júlio Augusto Gurgel Alves, Lilia Maria Carneiro Câmara, Fabrício da Silva Costa, Rebeca Silveira Rocha, Maria Neile Torres de Araújo   +4 more
doaj   +1 more source

Telomere length heterogeneity in placenta revealed with high-resolution telomere length analysis [PDF]

, 2017
Introduction Telomeres, are composed of tandem repeat sequences located at the ends of chromosomes and are required to maintain genomic stability. Telomeres can become shorter due to cell division and specific lifestyle factors.
Baird, Duncan M., Garcia Martin, Isabel, Grimstead, Julia W., Janssen, A.B., John, Rosalind M., Jones, Robert, Penketh, Richard J. A.   +6 more
core   +2 more sources

The Secretome of Human Trophoblast Stem Cells Attenuates Senescence‐Associated Traits

Aging Cell, Volume 25, Issue 2, February 2026.
Human trophoblast stem cell‐derived secretome/conditioned medium (hTSC‐CM) and the extracellular vesicles (EVs) therein suppress DNA damage and NF‐κB activation in senescent fibroblasts, in turn reducing the production of senescence‐associated secretory phenotype (SASP) factors. This study highlights hTSC‐CM and EVs as potential senotherapeutic agents.
Kotb Abdelmohsen, Jennifer L. Martindale, Martina Rossi, Chang Hoon Shin, Apala Pal, Rachel Munk, Martin Salamini‐Montemurri, Mirko Baranzini, Ethan M. Arends, Maja Mustapic, Yuta Lee, Jau‐Nan Lee, Sicco H. Popma, Justin Hu, Nathan Duda, Carlos J. Nogueras‐Ortiz, Dimitrios Kapogiannis, Chang‐Yi Cui, Myriam Gorospe   +18 more
wiley   +1 more source

Diagnóstico pré-natal das genodermatoses Prenatal diagnosis of genodermatoses

Anais Brasileiros de Dermatologia, 2007
O diagnóstico pré-natal está indicado para algumas genodermatoses graves, como a epidermólise bolhosa distrófica recessiva e a epidermólise bolhosa juncional. A biópsia de pele fetal foi introduzida em 1980, mas não pode ser realizada antes da 15a semana
Maria Carolina de Abreu Sampaio, Zilda Najjar Prado de Oliveira, Javier Miguelez   +2 more
doaj   +1 more source

Management of Molar‐Pregnancy and Associated Gestational Trophoblastic Neoplasia at a Specialised Unit: 10‐Year Review

Australian and New Zealand Journal of Obstetrics and Gynaecology, Volume 66, Issue 1, February 2026.
ABSTRACT Patients diagnosed with gestational trophoblastic diseases (GTD) can develop malignant gestational trophoblastic neoplasia (GTN). ß‐hCG monitoring is important in the early detection of GTN. The primary outcome of this study was to describe ß‐hCG monitoring completion rates and time from GTN diagnosis to chemotherapy commencement for patients ...
Harrison Odgers, Shannon Philp, Trevor Tejada‐Berges   +2 more
wiley   +1 more source