Results 91 to 100 of about 435,860 (265)

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Children with craniopharyngioma resection had better response to recombinant human growth hormone therapy than those with idiopathic short stature

Frontiers in Endocrinology
ObjectiveTo compare growth response and rhGH dosage requirements between children with craniopharyngioma post-resection (CP group, n=18) and those with idiopathic short stature (ISS group, n=18).MethodsA retrospective analysis (2010–2020) was conducted ...
Ting Li, Chenyang Li, Xi Wang, Min Nie, Xueyan Wu, Jiangfeng Mao   +5 more
doaj   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Meta-analysis of the therapeutic effects of traumatic BPPV and idiopathic BPPV

Frontiers in Neurology
ObjectiveTo systematically evaluate differences in treatment efficacy and prognosis between traumatic benign paroxysmal positional vertigo (t-BPPV) and idiopathic BPPV (i-BPPV), and to provide evidence-based guidance for clinical practice.MethodsWe ...
Yifei Fu, Zhibin Zhao
doaj   +1 more source

Idiopathic Cardiomegaly [PDF]

BMJ, 1960
G, FORBES, A, BRADLEY
openaire   +2 more sources

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

De Novo Discovery of Nonstandard Thioisoindole‐Bridged Bicyclic Peptides Targeting Traf2‐ and NCK‐Interacting Kinase

Angewandte Chemie, EarlyView.
An optimized strategy for the ribosomal synthesis of thioisoindole‐bridged bicyclic (TiB) peptides is incorporated into the RaPID platform, enabling high‐throughput discovery from topologically defined TiB libraries. Proof‐of‐concept selection against TNIK identifies nanomolar‐affinity ligands with inhibitory activity, while x‐ray crystallography ...
Yue Zhang, Alexander A. Vinogradov, Keisuke Hamada, Yin Sun, Toru Sengoku, Hiroaki Suga   +5 more
wiley   +2 more sources

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

Idiopathic scoliosis

Medicinski pregled, 2012
Introduction. Idiopathic scoliosis is a structural and lateral curvature of the spine for which a currently recognizable cause has not been found and there is no basic evidence for physical and radiographic pathology. Complications. Scoliosis could be a cause of the back pain, deformities, respiratory and cardiology problems.
openaire   +3 more sources