Compound Heterozygous LTBP2 Mutations Associated With Juvenile-Onset Open-Angle Glaucoma and Marfan-Like Phenotype.
Sign Up to like & getrecommendations! Published in 2023 at "JAMA ophthalmology"
DOI: 10.1001/jamaophthalmol.2023.1488
Abstract: This case report describes a patient diagnosed at age 13 years with glaucoma who later presented with elevated intraocular pressure, severe cupping, open iridocorneal angle, and lens dislocation. read more here.
Keywords: heterozygous ltbp2; ltbp2 mutations; mutations associated; compound heterozygous ... See more keywords
GRN Mutations Are Associated with Lewy Body Dementia
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders"
DOI: 10.1002/mds.29144
Abstract: Loss‐of‐function mutations in GRN are a cause of familial frontotemporal dementia, and common variants within the gene have been associated with an increased risk of developing Alzheimer's disease and Parkinson's disease. Although TDP‐43‐positive inclusions are… read more here.
Keywords: associated lewy; mutations associated; grn mutations; lewy body ... See more keywords
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies
Sign Up to like & getrecommendations! Published in 2018 at "Human Genetics"
DOI: 10.1007/s00439-018-1892-1
Abstract: Intellectual disability (ID) has an estimated prevalence of 1.5–2%. In most affected individuals, its genetic basis remains unclear. Whole exome sequencing (WES) studies have identified a multitude of novel causative gene defects and have shown… read more here.
Keywords: novo fbxo11; behavioural anomalies; intellectual disability; fbxo11 mutations ... See more keywords
New mutations associated with Hirschsprung disease.
Sign Up to like & getrecommendations! Published in 2020 at "Anales de pediatria"
DOI: 10.1016/j.anpede.2019.05.007
Abstract: INTRODUCTION Hirschsprung Disease is caused by an impairment in cell migration from the neural crest to the gastrointestinal tract, resulting in an absence of neurons in the myenteric plexus. Many mutations in several genes have… read more here.
Keywords: new mutations; associated hirschsprung; hirschsprung disease; disease ... See more keywords
Effects of FKBP12 and type II BMP receptors on signal transduction by ALK2 activating mutations associated with genetic disorders.
Sign Up to like & getrecommendations! Published in 2018 at "Bone"
DOI: 10.1016/j.bone.2018.03.015
Abstract: Various substitution mutations in ALK2, a transmembrane serine/threonine kinase receptor for bone morphogenetic proteins (BMPs), have been identified in patients with genetic disorders such as fibrodysplasia ossificans progressiva (FOP), diffuse intrinsic pontine glioma (DIPG) and… read more here.
Keywords: signal transduction; genetic disorders; transduction alk2; mutations associated ... See more keywords
NOVEL ALPHA-ACTININ 2 MUTATIONS ARE ASSOCIATED WITH CARDIOMYOPATHY AND HYPERTROPHY IN HUMAN CARDIAC TISSUE AND IPSC-DERIVED CARDIOMYOCYTES
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the American College of Cardiology"
DOI: 10.1016/s0735-1097(19)31634-1
Abstract: In cardiac and skeletal muscle, alpha-actinins are critical cytoskeletal proteins that anchor actin filaments within the sarcomere. Mutations in ACTN2 have been associated with cardiac abnormalities, including arrhythmias, hypertrophic and dilated cardiomyopathies. However, the mechanisms… read more here.
Keywords: cardiomyopathy hypertrophy; mutations associated; novel alpha; associated cardiomyopathy ... See more keywords
1437Single cell RNA sequencing reveals profound changes in monocytic cell clusters in patients with mutations associated with clonal hematopoiesis
Sign Up to like & getrecommendations! Published in 2019 at "European Heart Journal"
DOI: 10.1093/eurheartj/ehz748.0072
Abstract: Monocytes and macrophages have distinct roles in cardiovascular health where they may contribute to beneficial processes like wound healing and cardiac conductance or to pathological processes like inflammation, remodeling and fibrosis. Despite their importance, the… read more here.
Keywords: clonal hematopoiesis; cell rna; rna sequencing; mutations associated ... See more keywords
NCOG-46. A PILOT STUDY OF GERMLINE CODING MUTATIONS ASSOCIATED WITH IMPAIRED DEVELOPMENT AND ADAPTIVE BEHAVIOR IN PEDIATRIC MEDULLOBLASTOMA PATIENTS TREATED ON HEAD START 4
Sign Up to like & getrecommendations! Published in 2020 at "Neuro-oncology"
DOI: 10.1093/neuonc/noaa215.584
Abstract: Children with brain tumors often carry germline mutations that have long been known to contribute to tumorigenesis and treatment response. However, less is known about how germline mutations may impact developmental and behavioral outcomes for… read more here.
Keywords: adaptive behavior; head start; study; mutations associated ... See more keywords
Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Medicine"
DOI: 10.1097/md.0000000000014782
Abstract: Rationale: Clinical and genetic management of patients with rare syndromes is often a difficult, confusing, and slow task. Patient concerns: Male child patient with a multisystemic disease showing congenital heart defects, facial dysmorphism, skeletal malformations,… read more here.
Keywords: abl1 mutations; associated syndrome; abl1; germline abl1 ... See more keywords
Identification of POLR3B biallelic mutations‐associated hypomyelinating leukodystrophy‐8 in two siblings
Sign Up to like & getrecommendations! Published in 2023 at "Clinical Genetics"
DOI: 10.1111/cge.14300
Abstract: POLR3B gene encodes the 2nd largest catalytic subunit and affects the function of RNA polymerase III enzymes in transcription. Bi‐allelic variants in POLR3B pathogenically cause hypomyelinating leukodystrophy‐8 (HLD8). Herein, we recruited a family with two… read more here.
Keywords: mutations associated; polr3b biallelic; identification polr3b; biallelic mutations ... See more keywords
Dissecting and analyzing the Subclonal Mutations Associated with Poor Prognosis in Diffuse Glioma
Sign Up to like & getrecommendations! Published in 2022 at "BioMed Research International"
DOI: 10.1155/2022/4919111
Abstract: The prognostic and therapeutic implications in diffuse gliomas are still challenging. In this study, we first performed an integrative framework to infer the clonal status of mutations in glioblastomas (GBMs) and low-grade gliomas (LGGs) by… read more here.
Keywords: prognosis; clonal status; mutations associated; poor prognosis ... See more keywords