Results 81 to 90 of about 4,652 (175)

Deciphering the Presence of Active Interscapular Brown Adipose Tissue in Humans

Acta Physiologica, Volume 242, Issue 4, April 2026.
ABSTRACT Brown adipose tissue (BAT) is increasingly recognized as a metabolically active tissue in humans, although its physiological relevance remains incompletely understood. In rodents, BAT is well characterized, with interscapular BAT (iBAT) representing the main thermogenic depot.
Joaquin Sanchez‐Gomez, Samuel Ruiz‐Campos, Anabel Chica‐Perez, Andrés Baena‐Raya, Francisco M. Acosta, Christian Wolfrum, Patrick C. N. Rensen, Tania Romacho, Borja Martinez‐Tellez   +8 more
wiley   +1 more source

Fgf8 expression in the Tbx1 domain causes skeletal abnormalities and modifies the aortic arch but not the outflow tract phenotype of Tbx1 mutants

Developmental Biology, 2006
Fgf8 and Tbx1 have been shown to interact in patterning the aortic arch, and both genes are required in formation and growth of the outflow tract of the heart. However, the nature of the interaction of the two genes is unclear. We have utilized a novel Tbx1(Fgf8) allele which drives Fgf8 expression in Tbx1-positive cells and an inducible Cre-LoxP ...
VITELLI F, ZHANG Z, HUYNH T, SOBOTKA A, MUPO A, BALDINI, ANTONIO   +5 more
openaire   +3 more sources

Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance

Clinical Genetics, Volume 109, Issue 4, Page 615-629, April 2026.
This review primarily summarizes the genetic defects in Müllerian anomalies, the tools used to validate these genetic defects, and the future clinical significance of identifying the precise genetic etiology of Müllerian anomalies. ABSTRACT Müllerian anomalies are a collection of heterogeneous anatomical disorders of the female genital tract that ...
Jingfang Li, Xin Hou, Xiangyu Wang, Juan Li, Li Li, Xiangyi Ma   +5 more
wiley   +1 more source

Antipsychotic Use Among Intellectually Disabled Individuals With Rare Genetic Variants That Confer Risk for Schizophrenia

Journal of Intellectual Disability Research, Volume 70, Issue 4, Page 440-445, April 2026.
ABSTRACT Background Rare genetic variation can predispose individuals to the development of schizophrenia, with certain genes and copy number variants (CNVs) conferring risk at the exome/genome‐wide level. Despite this strong association, little is known about antipsychotic effectiveness and tolerability among individuals with most of these disorders ...
Mark Ainsley Colijn
wiley   +1 more source

A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome

Clinical Diabetes and Endocrinology, 2019
Background The heterozygous microdeletion of chromosome 22q11.2 results in a spectrum of disorders, including DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS), with phenotypic features that can include the classic triad of congenital heart ...
Raad A. Haddad, Gregory A. Clines, Jennifer A. Wyckoff   +2 more
doaj   +1 more source

Precise Construction of an Antimicrobial Peptide Targeting Bacterial Cell Membranes Derived From Natural Peptides

Advanced Science, Volume 13, Issue 17, 23 March 2026.
An AMP (P 3‐3R‐8I) based on natural peptides, which can target bacterial cell membranes, was precisely constructed via amino acid mutation. P 3‐3R‐8I exhibits antibacterial capability which could be attributed to the ability of P 3‐3R‐8I to quickly penetrate bacterial cell membranes and then to bind to bacterial DNA.
Jiaqi Huang, Bohao Liu, Xingzhuo Zhu, Deqian Qiao, Sizhe Chen, Xiaoyan Zeng, Qingqing Yang, Zihuan Wei, Yinjuan Huang, Jizhao Wang, Guangjian Zhang, Qiuyu Gong   +11 more
wiley   +1 more source

Essential role of the Crk family-dosage in DiGeorge-like anomaly and metabolic homeostasis

Life Science Alliance, 2020
This study presents evidence that CRK/CRKL and TBX1 may share pathways that participate in organogenesis affected in DiGeorge syndrome (22q11.2DS) via global control of gene expression and metabolism CRK and CRKL ( CRK-like ) encode adapter proteins with
Akira Imamoto, Sewon Ki, Leiming Li, Kazunari Iwamoto, Venkat Maruthamuthu, John Devany, Ocean Lu, Tomomi Kanazawa, Suxiang Zhang, Takuji Yamada, Akiyoshi Hirayama, Shinji Fukuda, Yutaka Suzuki, Mariko Okada   +13 more
doaj   +1 more source

A novel MMP13 frameshift variant causes short stature via enhanced MMP13–HSPA5 interaction and activated endoplasmic reticulum stress

Clinical and Translational Medicine, Volume 16, Issue 3, March 2026.
The MMP13 R458fs protein is retained in the ER and exhibits enhanced binding to HSPA5, which promotes the dissociation of IRE1α, ATF6, and PERK. This triggers ER stress, leading to increased chondrocyte apoptosis and abnormal expansion of the growth plate hypertrophic zone, ultimately impairing long bone growth and causing short stature.
Huifei Lu, Xin Feng, Suping Dai, Yilin Zhu, Ke Yuan, Yonghua Chen, Jianfang Zhu, Yanlan Fang, Qingfeng Yan, Chunlin Wang   +9 more
wiley   +1 more source

Familial hypertrophic cardiomyopathy associated with TBX1 variation

European Journal of Medical Genetics
Hypertrophic cardiomyopathy (HCM) is a common genetic cardiovascular disease characterized by significant genetic heterogeneity. While the T-box transcription factor 1 (TBX1) gene is known to cause congenital cardiovascular defects, it has not been previously associated with HCM.Whole-exome sequencing (WES) was performed to identify causative gene ...
Jie Zhang, Yafei Deng, Yaxin Huang, Daoheng Hu, Haiyan Wu, Tao Lv, Weng Yang, Lilan Wan, Fang Liu, Jilin Hu   +9 more
openaire   +2 more sources

Gene expression profiling in the developing secondary palate in the absence of Tbx1 function

BMC Genomics, 2018
Background Microdeletion of chromosome 22q11 is associated with significant developmental anomalies, including disruption of the cardiac outflow tract, thymic/parathyroid aplasia and cleft palate.
Maria Zoupa, Guilherme Machado Xavier, Stephanie Bryan, Ioannis Theologidis, Matthew Arno, Martyn T. Cobourne   +5 more
doaj   +1 more source