Mutations in TOP2B cause autosomal‐dominant hereditary hearing loss via inhibition of the PI3K‐Akt signalling pathway
Sign Up to like & getrecommendations! Published in 2019 at "FEBS Letters"
DOI: 10.1002/1873-3468.13482
Abstract: Hereditary hearing impairment is a clinically and genetically heterogeneous disease. Whole‐exome sequencing was performed on seven affected and six unaffected members in a large Chinese family with autosomal‐dominant nonsyndromic hearing loss. The pathogenic variant of… read more here.
Keywords: hearing loss; autosomal dominant; pi3k akt;
Mutations in MICAL‐1cause autosomal‐dominant lateral temporal epilepsy
Sign Up to like & getrecommendations! Published in 2018 at "Annals of Neurology"
DOI: 10.1002/ana.25167
Abstract: Autosomal‐dominant lateral temporal epilepsy (ADLTE) is a genetic focal epilepsy characterized by auditory symptoms. Two genes, LGI1 and RELN, encoding secreted proteins, are implicated in the etiology of ADLTE, but half of the affected families… read more here.
Keywords: epilepsy; dominant lateral; lateral temporal; temporal epilepsy ... See more keywords
Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24136
Abstract: Alpha‐chain collagen molecules encoded by genes that include COL11A1 are essential for skeletal, ocular, and auditory function. COL11A1 variants have been reported in syndromes involving these organ systems. However, a description of the complete clinical… read more here.
Keywords: dominant nonsyndromic; hearing loss; autosomal dominant; col11a1 ... See more keywords
Autosomal Dominant Hypocalcemia Type 1: A Systematic Review
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.4659
Abstract: Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism due to activating variants of the calcium‐sensing receptor gene (CASR). Inherited or de novo activating variants of the CASR alter the set point… read more here.
Keywords: hypocalcemia type; calcium; therapy; dominant hypocalcemia ... See more keywords
Relationship of Seminal Megavesicles, Prostate Median Cysts, and Genotype in Autosomal Dominant Polycystic Kidney Disease
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Magnetic Resonance Imaging"
DOI: 10.1002/jmri.26289
Abstract: Autosomal dominant polycystic kidney disease (ADPKD) can involve prostate and seminal vesicles but the potential interrelationship of these findings and associations with PKD gene mutation locus and type is unknown. read more here.
Keywords: polycystic kidney; autosomal dominant; dominant polycystic; kidney disease ... See more keywords
Dystonia in a Patient with Autosomal‐Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene
Sign Up to like & getrecommendations! Published in 2017 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12397
Abstract: Autosomal-dominant progressive external ophthalmoplegia type 1 (adPEO1) is characterized by slowly progressive ophthalmoplegia. It can be caused by mutations in different genes, including the mitochondrial DNA polymerase c (POLG), which results in heterogeneous clinical phenotypes… read more here.
Keywords: progressive external; ophthalmoplegia; ophthalmoplegia type; dominant progressive ... See more keywords
Demographics and Clinical Characteristics of Autosomal Dominant Spinocerebellar Ataxia in Canada
Sign Up to like & getrecommendations! Published in 2023 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13666
Abstract: Autosomal dominant (AD) spinocerebellar ataxias (SCAs) encompass a large group of rare disorders, which occurs in individuals of different ethnic backgrounds. To date, demographics, and clinical descriptions of AD SCA in Canada are lacking. read more here.
Keywords: dominant spinocerebellar; demographics clinical; characteristics autosomal; spinocerebellar ataxia ... See more keywords
Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.518
Abstract: Pathogenic variants in FBN1 cause autosomal dominant Marfan syndrome but can also be found in patients presenting with apparently isolated features of Marfan syndrome. Moreover, several families with autosomal recessive Marfan syndrome caused by pathogenic… read more here.
Keywords: syndrome caused; dominant marfan; marfan syndrome; autosomal dominant ... See more keywords
Maternally inherited autosomal dominant PLAG-1 related Silver Russell Syndrome in a fetus with intra-uterine growth restriction.
Sign Up to like & getrecommendations! Published in 2023 at "Prenatal diagnosis"
DOI: 10.1002/pd.6364
Abstract: We report a case of maternally inherited autosomal dominant PLAG‐1 related Silver Russell syndrome (SRS) in a fetus with IUGR and a mother who had growth and feeding problems in early life, dextrocardia and an… read more here.
Keywords: maternally inherited; silver russell; inherited autosomal; growth ... See more keywords
Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II)
Sign Up to like & getrecommendations! Published in 2017 at "Calcified Tissue International"
DOI: 10.1007/s00223-017-0332-x
Abstract: The main hallmark of high bone mass (HBM) disorders is increased bone mineral density, potentially visible in conventional radiographs and quantifiable by other radiographic methods. While one of the most common forms of HBM is… read more here.
Keywords: hbm; dominant osteopetrosis; ado; autosomal dominant ... See more keywords
Colonic diverticular disease in autosomal dominant polycystic kidney disease: is there really an association? A nationwide analysis
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Colorectal Disease"
DOI: 10.1007/s00384-020-03736-2
Abstract: Purpose Colonic diverticulosis, diverticulitis, and diverticular bleeding are reportedly more common in patients with autosomal dominant polycystic kidney disease (ADPKD). Other studies have questioned this association. The objectives of our study are to clarify this… read more here.
Keywords: prevalence; disease; diverticular disease; autosomal dominant ... See more keywords