Results 91 to 100 of about 5,428 (208)

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

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

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

A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome

, 2014
Otitis media (OM), the inflammation of the middle ear, is the most common disease and cause for surgery in infants worldwide. Chronic Otitis media with effusion (OME) often leads to conductive hearing loss and is a common feature of a number of ...
Fuchs, JC, Baldini, A, Linden, JF, Tucker, AS   +3 more
core  

A regulatory relationship between Tbx1 and FGF signaling during tooth morphogenesis and ameloblast lineage determination [PDF]

, 2008
The Tbx1 gene is a transcriptional regulator involved in the DiGeorge syndrome, which affects normal facial and tooth development. Several clinical reports point to a common enamel defect in the teeth of patients with DiGeorge syndrome.
Rice, David P.C., Tucker, A S, Rice, D P C, De Bari, C, Cobourne, M T, Rice, David P. C., De Bari, Cosimo, Tucker, Abigail S., Cobourne, Martyn T., Cobourne, Martyn T.; id_orcid, Mitsiadis, Thimios A., Tucker, Abigail S.; id_orcid, Mitsiadis, T A   +12 more
core   +1 more source

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

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

Tbx1 regulates Smad signaling.

, 2009
To have insight into the molecular mechanisms governing the function of Tbx1, a transcription factor involved in DiGeorge syndrome (DGS) and cardiovascular development, we searched for proteins interacting with it. Using an affinity purification protocol
Fulcoli, Filomena Gabriella
core  

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

Mesodermal Tbx1 is required for patterning the proximal mandible in mice

Developmental Biology, 2010
Defects in the lower jaw, or mandible, occur commonly either as isolated malformations or in association with genetic syndromes. Understanding its formation and genetic pathways required for shaping its structure in mammalian model organisms will shed light into the pathogenesis of malformations in humans.
Aggarwal, Vimla S., Carpenter, Courtney, Freyer, Laina, Liao, Jun, Petti, Marilena, Morrow, Bernice E.   +5 more
openaire   +2 more sources