Results 71 to 80 of about 255,581 (267)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Animal models of chronic thromboembolic pulmonary hypertension

Animal Models and Experimental Medicine, EarlyView.
Current animal models of CTEPH. Created using BioRender.com. Abstract Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare, yet life‐threatening disorder characterized by persistent pulmonary vascular obstruction and elevated pulmonary artery pressure, with progressive remodeling and subsequent right heart failure.
Yong‐Jian Zhu, Lin‐Chao Zhou, Xiao‐Xue Zhang, Xiao‐Yang Ren, Yi Yan, Shao‐Fei Liu   +5 more
wiley   +1 more source

High‐Altitude Hypoxemia in Adults With Sickle Cell Disease (SCD)

American Journal of Hematology, Volume 101, Issue 7, Page 1665-1669, July 2026.
Mofiyin A. Obadina, Sherri Morris, Tara Alin, Barbara LeVarge, Jane A. Little   +4 more
wiley   +1 more source

TWEAK/Fn14 Signaling Drives Oxidative Cardiac Injury in Systemic Lupus Erythematosus: Evidence From Patient Biomarker Studies, Lupus Mouse Models, and Cardiomyocyte Assays

Arthritis &Rheumatology, EarlyView.
Objective Cardiac involvement is a major cause of morbidity in systemic lupus erythematosus (SLE). Tumor necrosis factor–like weak inducer of apoptosis (TWEAK) is elevated in SLE, but its contribution to lupus‐associated cardiac injury is unclear. We investigated the role of TWEAK/fibroblast growth factor–inducible 14 (Fn14) signaling in SLE‐related ...
Yale Liu, Zhu Yan, Xueting Peng, Meixuan Li, Juan Wang, Yan Zhang, Xiaoqian Hu, Mingzhu Zhou, Kaixuan Ren, Dan Zhang, Xingyi Guo, Yumin Xia, Huanhuan Huo   +12 more
wiley   +1 more source

Integrated Clinical and Proteomic Profiling of CD19 CAR‐T Cell Therapy in Progressive Systemic Sclerosis

Arthritis &Rheumatology, Accepted Article.
Objective To characterize the clinical, immunologic, and proteomic changes associated with CD19 chimeric antigen receptor T‐cell therapy in patients with progressive systemic sclerosis. Methods Patients with progressive systemic sclerosis received CD19 CAR‐T cell therapy and were followed longitudinally for safety, clinical efficacy, immune ...
Chenhan Jia, Wanyi Lin, Zhangyi Zhao, Fenglin Wu, Chaoyu Gu, Yuankai Sun, Zhe Ding, Chang Wei, Xinyu Li, Cuiwei Xie, Peng Xia, Zhen Xia, Xuesong Liu, Shaoying Yang, Chunyan Zhang, Hanlin Yin, Liangjing Lu   +16 more
wiley   +1 more source

Ischaemia as a cause of LVOT gradient reversal in HCM

Echo Research and Practice, 2017
We present the case of a previously fit 84-year-old female with long-standing systemic hypertension and the echo phenotype of hypertrophic cardiomyopathy (HCM) – asymmetrical septal hypertrophy, significant resting left ventricular (LV) outflow ...
Camelia Demetrescu, Shelley Rahman Haley, Aigul Baltabaeva   +2 more
doaj   +1 more source