Novel mutations in antiviral multiresistant HSV‐2 genital lesion: A case report
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Virology"
DOI: 10.1002/jmv.28070
Abstract: HSV‐2 antiviral resistance mainly occurs in immunocompromised patients and especially in HIV‐positive individuals receiving long‐term antiviral treatment. Those situations can be challenging as few alternatives are available for HSV infection management. To describe clinical and… read more here.
Keywords: hsv genital; hsv; genital lesion; resistance ... See more keywords
Overt Hypogonadism May Not Be a Sentinel Sign of RING Finger Protein 216: Two Novel Mutations Associated with Ataxia, Chorea, and Fertility
Sign Up to like & getrecommendations! Published in 2019 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12839
Abstract: We describe a fertile patient presenting a Huntington-like disorder, normal peripheral nerve conduction, and atypical magnetic resonance imaging (MRI) findings who harbored 2 novel mutations in RING Finger Protein 216 (RNF216). A 44-year-old woman developed… read more here.
Keywords: protein 216; associated ataxia; novel mutations; ring finger ... See more keywords
Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1105
Abstract: Skeletal disorders, which have great genotypic and phenotypic varieties, are a considerable challenge to differentiate these diseases and provide a definitive prenatal diagnosis or pre‐implantation. The present study aims to identify the causative mutation in… read more here.
Keywords: col1a1 fetal; mutations col1a1; novel mutations; genetic skeletal ... See more keywords
Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1217
Abstract: The objective of this study was to investigate the genetic causes of two probands diagnosed as Waardenburg syndrome (WS type I and IV) from two unrelated Chinese families. read more here.
Keywords: pax3 sox10; novel mutations; mutations pax3; waardenburg syndrome ... See more keywords
CCN6 mutation detection in Chinese patients with progressive pseudo‐rheumatoid dysplasia and identification of four novel mutations
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1261
Abstract: No formal diagnostic criteria for progressive pseudo‐rheumatoid dysplasia (PPD) are available because of insufficient clinical data, which results in that PPD is often misdiagnosed with other diseases. Whole exome sequencing (WES) and Sanger sequencing were… read more here.
Keywords: rheumatoid dysplasia; progressive pseudo; novel mutations; pseudo rheumatoid ... See more keywords
Report of rare and novel mutations in candidate genes in a cohort of hearing-impaired patients.
Sign Up to like & getrecommendations! Published in 2022 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1887
Abstract: BACKGROUND Many hearing-impaired patients carry mutations in rare or novel genes undetected in regular genetic hot regions/genes screening. METHODS We collected clinical and genetic data from subjects with hearing loss who visited our department for… read more here.
Keywords: novel mutations; impaired patients; hearing impaired; rare novel ... See more keywords
Identification of novel mutations in the rice starch branching enzyme I gene via TILLING by sequencing
Sign Up to like & getrecommendations! Published in 2018 at "Euphytica"
DOI: 10.1007/s10681-018-2174-7
Abstract: Starch branching enzymes (SBEs) incorporate α-1,6-branched glucosidic linkages into α-1,4-glucan chains. Rice has three SBE isoforms (SBEI, SBEIIa, and SBEIIb), which differ in the amylose chain lengths that they transfer to amylopectin. SBEI mutants characterized… read more here.
Keywords: starch branching; novel mutations; identification novel; tilling sequencing ... See more keywords
Two novel mutations in the GAN gene causing giant axonal neuropathy
Sign Up to like & getrecommendations! Published in 2018 at "World Journal of Pediatrics"
DOI: 10.1007/s12519-018-0140-z
Abstract: BackgroundGiant axonal neuropathy (GAN) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. This disorder presents motor and sensitive symptoms with an onset in early childhood. Progressive neurodegeneration makes the patients wheelchair dependent by… read more here.
Keywords: axonal neuropathy; mutations gan; novel mutations; two novel ... See more keywords
ATP13A2 novel mutations causing a rare form of juvenile-onset Parkinson disease
Sign Up to like & getrecommendations! Published in 2018 at "Brain and Development"
DOI: 10.1016/j.braindev.2018.05.017
Abstract: Parkinson disease is a common neurodegenerative disease that typically starts around the age of 60 years; however, juvenile-onset disease can occur rarely. Although Parkinson disease is typically sporadic; in rare occasions, it can be caused by… read more here.
Keywords: onset parkinson; novel mutations; disease; parkinson disease ... See more keywords
Novel mutations in FSIP2 lead to multiple morphological abnormalities of the sperm flagella and poor ICSI prognosis.
Sign Up to like & getrecommendations! Published in 2021 at "Gene"
DOI: 10.1016/j.gene.2021.145536
Abstract: Multiple morphological abnormalities of the sperm flagella (MMAF) is defined as deformities that cause sperm motility disorders, further resulting in male infertility. However, the reported genes related to sperm flagellar defects can only explain approximately… read more here.
Keywords: morphological abnormalities; abnormalities sperm; sperm flagella; novel mutations ... See more keywords
Novel mutations of SOX10 gene in Chinese patients with type II Waardenburg syndrome.
Sign Up to like & getrecommendations! Published in 2020 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2020.110172
Abstract: Waardenburg Syndrome (WS) is a condition characterized by sensorineural deafness and pigment disturbances of the skin, hair and iris. By using the latest genomics technology, the WS-related gene mutations and corresponding mechanisms have been widely… read more here.
Keywords: sox10 gene; novel mutations; waardenburg syndrome; gene chinese ... See more keywords