Results 101 to 110 of about 13,340,828 (402)
Pathway-based classification of genetic diseases
Molecular Cytogenetics, 2019 In medical genetics, diseases are classified according to the nature (hypothetical nature) of the underlying genetic defect. The classification is “gene-centric” and “factor-centric”; a disease may be, thereby, designated as monogenic, oligogenic or ...
I. Iourov, S. Vorsanova, Y. Yurov
semanticscholar +1 more source
Evolutionary interplay between viruses and R‐loops
FEBS Letters, EarlyView.Viruses interact with specialized nucleic acid structures called R‐loops to influence host transcription, epigenetic states, latency, and immune evasion. This Perspective examines the roles of R‐loops in viral replication, integration, and silencing, and how viruses co‐opt or avoid these structures.
Zsolt Karányi +4 more
wiley +1 more source
Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene [PDF]
, 2019 Gaucher Disease (GD) type 3 is a neurological form of a multisystemic autosomal recessive disorder belonging to the group of lysosomal storage diseases.
Amaral, Olga +5 more
core +2 more sources
Genetics, 2018 Genetic diseases are both inherited and acquired. Many genetic diseases fall under the paradigm of orphan diseases, a disease found in < 1 in 2000 persons.
Katherine A Strynatka +3 more
semanticscholar +1 more source
Genetics of kidney disease [PDF]
Kidney International, 2003 Multiple lines of evidence suggest that susceptibility to develop end-stage renal disease (ESRD) has a significant genetic component. These studies include familial aggregation studies, comparisons of incidence rates between different racial or ethnic populations, and segregation analysis. Multiple approaches have been employed in an effort to identify
openaire +3 more sources
Disruption of SETD3‐mediated histidine‐73 methylation by the BWCFF‐associated β‐actin G74S mutation
FEBS Letters, EarlyView.The β‐actin G74S mutation causes altered interaction of actin with SETD3, reducing histidine‐73 methylation efficiency and forming two distinct actin variants. The variable ratio of these variants across cell types and developmental stages contributes to tissue‐specific phenotypical changes. This imbalance may impair actin dynamics and mechanosensitive
Anja Marquardt +8 more
wiley +1 more source
GENETICS OF AUTISTIC DISORDER (REVIEW OF FOREIGN LITERATURE)
Русский журнал детской неврологии, 2015 Autism can occur in combination with chromosomal and genetic syndromes, malformations of the brain, metabolic diseases, etc. In this regard, currently adopted the term «atypical» or «syndromic» autism – autism, which is a symptom of another disease ...
M. Yu. Bobylova, H. L. Petchatnikova
doaj +1 more source
Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene. [PDF]
, 2017 Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two apparently distinct neurodegenerative diseases, the former characterized by selective loss of motor neurons in the brain and spinal cord and the latter characterized by ...
Pasinelli, Piera +3 more
core +2 more sources
Purification tags markedly affect self‐aggregation of CPEB3
FEBS Letters, EarlyView.Although recombinant proteins are used to study protein aggregation in vitro, uncleaved tags can interfere with accurate interpretation. Our findings demonstrate that His₆‐GFP and His₁₂ tags significantly affect liquid droplet and amyloid fibril formation in the intrinsically disordered region (IDR) of mouse cytoplasmic polyadenylation element‐binding ...
Harunobu Saito +6 more
wiley +1 more source
Molecular Genetics & Genomic Medicine, 2023 Background Dystrophinopathies are X‐linked recessive conditions caused by pathogenic variants in the dystrophin (DMD) gene. In a family that included two boys with Becker muscular dystrophy (BMD) due to a DMD deletion of exons 45–47, maternal carrier ...
Elizabeth A. Ulm +3 more
doaj +1 more source