Results 91 to 100 of about 2,601,816 (350)

A UBE3A‐UTX Proteostasis‐Epigenetic Axis Governs Hypothalamic Energy Homeostasis

Advanced Science, EarlyView.
Ubiquitin protein ligase E3A (UBE3A) regulates hypothalamic energy homeostasis and promotes degradation of the histone demethylase UTX (KDM6A). Neuronal UBE3A loss increases susceptibility to diet‐induced obesity and is accompanied by UTX accumulation, reduced histone H3 lysine 27 trimethylation, and altered endoplasmic reticulum stress‐responsive gene
Junekyoung Lee, Jaeyoung Yoo, Young A. Kim, Zhuodu Wei, Yunseo Lee, Woo‐Jeong Shon, Je Kyung Seong, Seunghee Lee   +7 more
wiley   +1 more source

A case report of Diets-Jongmans syndrome caused by a KDM3B gene variant

中国当代儿科杂志
A 5-year-3-month-old boy presented with intellectual disability, autism spectrum disorder, short stature, long ears, large auricles, a broad nasal tip, a pointed chin, and cryptorchidism.
SHEN Ke-Xin, XIANG Yan-Jie, WANG Jin, REN Kang-Yi, DING Yuan   +4 more
doaj   +1 more source

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Dyke–Davidoff–Masson syndrome in a Nigerian

Epilepsy and Behavior Case Reports, 2017
Dyke–Davidoff–Masson syndrome (DDMS) is a rare, but important cause of drug-resistant seizures. Dyke–Davidoff–Masson syndrome is a constellation of clinical features that consists of hemiparesis, seizure, facial asymmetry, and intellectual disability ...
Philip B. Adebayo, Amnat Bakare, Modupe M. Bello, Opeyemi D. Olaewe, Kolawole W. Wahab   +4 more
doaj   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Health Needs of Adults with Intellectual Disability Relevant for the Family Physician

The Scientific World Journal, 2003
People with developmental disability, mental retardation, or intellectual disability are living longer and becoming prone to age-related health problems and diseases of old age much like the general population. This worldwide trend is also seen in Israel,
Joav Merrick, Isack Kandel, Mohammed Morad   +2 more
doaj   +1 more source

An epidemiological study on anemia among institutionalized people with intellectual and/or motor disability with special reference to its frequency, severity and predictors

BMC Public Health, 2006
Background To examine the type, frequency, severity, and predictors of anemia and its relationship with co-morbid conditions among institutionalized people with intellectual and/or motor disability.
Tomono Yuji, Nara Nobuo, Nakayama Takeo, Ohwada Hiroko, Yamanaka Keiko   +4 more
doaj   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

West syndrome in three patients with brain injury and a benign course

Epilepsy and Behavior Case Reports, 2017
Infants with West Syndrome and underlying structural pathology typically experience persistent symptomatic focal seizures and intellectual disability. We performed a retrospective case review of 84 patients with West Syndrome evaluated at one institution
Angelo Russo, Michael Duchowny, Antonella Boni, Melania Giannotta, Melissa Filippini, Giuseppe Gobbi   +5 more
doaj   +1 more source