Results 91 to 100 of about 62,119 (279)

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

A survey of sex chromatin abnormalities in mental hospitals. [PDF]

, 1968
N. Maclean, W.M. Court Brown, P.A. Jacobs, David Mantle, J.A. Strong   +4 more
openalex   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

A hepatoprotective experiment on taro vegetable (Colocasia esculenta (L.) Schott) flower employing animal models by mitigating oxidative stress

Animal Models and Experimental Medicine, EarlyView.
The antioxidant efficacy of Colocasia esculenta flower’s methanolic extract was assessed using 2,2′‐azino‐bis‐(3‐ethylbenzothiazoline‐6‐sulfonic) (ABTS) and 2,2‐diphenyl‐1‐picrylhydrazyl (DPPH) scavenging assay. The hepatoprotective effect was investigated by assessing liver injury indicators (amino transferase [ALT], aspartate amino transferase [AST],
Mahathir Mohammad, Fahmida Tasnim Richi, Rabiul Hossain, Md. Arafat, Pair Ahmed Jiko, Nazim Uddin Emon, Sayed Al Hossain Rabbi, Tirtha Khastagir, Md. Hemayet Hossain, Safaet Alam   +9 more
wiley   +1 more source

INO80 regulates chromatin accessibility to facilitate suppression of sex-linked gene expression during mouse spermatogenesis [PDF]

, 2023
Prabuddha Chakraborty, Terry Magnuson
openalex   +1 more source

Decoding regulatory programs underlying placode and dermal condensate cell fate commitment during hair follicle induction via single‐cell multi‐omics analysis

Animal Research and One Health, EarlyView.
The experimental framework of the study encompasses sample collection, single‐cell data analysis, and experimental validation. Abstract Understanding differences in chromatin state and changes in gene regulatory landscape of placode (Pc) and dermal condensate are crucial for decoding hair follicle (HF) morphogenesis programs.
Fang Li, Minghao Li, Tongtong Zhang, Menghua Sui, Hasan Khatib, Xin Wang   +5 more
wiley   +1 more source

Century-old chromatin architecture revealed in formalin-fixed vertebrates

Nature Communications
Gene expression is regulated by changes in chromatin architecture intrinsic to cellular differentiation and as an active response to environmental stimuli.
Erin E. Hahn, Jiri Stiller, Marina R. Alexander, Alicia Grealy, Jennifer M. Taylor, Nicola Jackson, Celine H. Frere, Clare E. Holleley   +7 more
doaj   +1 more source

Activin A–Activated ALK4 Induces Pathogenic Th17‐Involved Endothelial–Mesenchymal Transition in Systemic Lupus Erythematosus–Associated Pulmonary Arterial Hypertension

Arthritis &Rheumatology, EarlyView.
Objective Autoimmune diseases, such as systemic lupus erythematosus (SLE), are associated with pulmonary arterial hypertension (PAH), a condition that can lead to heart failure. However, whether T cells also contribute to the occurrence of PAH in SLE has not been clarified.
Shuliang Jing, Junyan Qian, Hongjie Ying, Pei Mao, Mingxin Yao, Zhihong Wu, Harm J. Bogaard, Lie Wang, Mengtao Li, Jun Yang   +9 more
wiley   +1 more source

Clinical Application of Sex Chromatin Tests [PDF]

, 1967
A. I. Taylor
openalex   +1 more source

Autoantibody response towards chromatin in patients with juvenile idiopathic arthritis

Arthritis &Rheumatology, Accepted Article.
Objective Juvenile idiopathic arthritis (JIA) patients frequently exhibit antinuclear antibodies (ANAs), but the specific antigen target recognized by them and the presence of additional autoantibody specificities in JIA patients remains elusive. Methods Plasma samples from 110 untreated patients with active JIA, as well as from 14 children with ...
Viola Pitkänen, Terhi Remes‐Pakarinen, Paula Vähäsalo, Milja Möttönen, Minna‐Maija Grönlund, Miika Arvonen, Mikael Knip, Riitta Veijola, Jorma Toppari, Jorma Ilonen, Johanna Lempainen, Anna‐Mari Schroderus, Liisa Kröger, Tuure Kinnunen   +13 more
wiley   +1 more source