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Plasma-derived exosomal miRNA profiles reveal potential epigenetic pathogenesis of premature ovarian failure
Plasma-derived exosomal miRNA profiles reveal potential epigenetic pathogenesis of premature ovarian failure
The role of plasma-derived exosomal miRNA in premature ovarian failure (POF) remains unclear. This study aimed to investig...
rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases
rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases
CD58 plays roles in cell adhesion and co-stimulation with antigen presentation from major histocompatibility complex class...
Genetics and epigenetics of diabetes and its complications in India
Genetics and epigenetics of diabetes and its complications in India
Diabetes mellitus (DM) has become a significant health concern with an increasing rate of morbidity and mortality worldwid...
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)
Episignatures are popular tools for the diagnosis of rare neurodevelopmental disorders. They are commonly based on a set o...
Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project
Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project
Congenital auricular deformity (CAD) is a complex phenotype that may occur as a single malformation or part of a congenita...
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants
To investigate the genotype-to-protein-to-phenotype correlations of succinic semialdehyde dehydrogenase deficiency (SSADHD...
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
Machado-Joseph disease (MJD/SCA3) is the most frequent dominant ataxia worldwide. It is caused by a (CAG)n expansion. MJD ...
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster
Arboleda-Tham Syndrome (ARTHS) is a rare genetic disorder caused by heterozygous, de novo mutations in Lysine(K) acetyltra...
CRISPR/Cas-based gene editing in therapeutic strategies for beta-thalassemia
CRISPR/Cas-based gene editing in therapeutic strategies for beta-thalassemia
Beta-thalassemia (β-thalassemia) is an autosomal recessive disorder caused by point mutations, insertions, and deleti...
Functional implications of paralog genes in polyglutamine spinocerebellar ataxias
Functional implications of paralog genes in polyglutamine spinocerebellar ataxias
Polyglutamine (polyQ) spinocerebellar ataxias (SCAs) comprise a group of autosomal dominant neurodegenerative disorders ca...
How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism
How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism
Precision medicine requires precise genetic variant interpretation, yet many disease-associated genes have unresolved vari...
Long noncoding RNAs as versatile molecular regulators of cellular stress response and homeostasis
Long noncoding RNAs as versatile molecular regulators of cellular stress response and homeostasis
Normal cell and body functions need to be maintained and protected against endogenous and exogenous stress conditions. Dif...
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence
CYP26B1 metabolizes retinoic acid in the developing embryo to regulate its levels. A limited number of individuals with pa...
Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective
Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective
Comprehending the molecular basis of quantitative genetic variation is a principal goal for complex diseases or traits. Mo...
A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration
A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration
ARSACS (autosomal recessive spastic ataxia of Charlevoix-Saguenay) is a human neurological disorder characterized by progr...
N6-methyladenosine modified lncRNAs signature for stratification of biochemical recurrence in prostate cancer
N6-methyladenosine modified lncRNAs signature for stratification of biochemical recurrence in prostate cancer
Nonmutational epigenetic reprogramming is a crucial mechanism contributing to the pronounced heterogeneity of prostate can...
Homozygous variants in CDC23 cause female infertility characterized by oocyte maturation defects
Homozygous variants in CDC23 cause female infertility characterized by oocyte maturation defects
Oocyte maturation defects are major phenotypes resulting in female infertility. Although many genetic factors have been fo...
Understanding the pathogenesis of brain arteriovenous malformation: genetic variations, epigenetics, signaling pathways, and immune inflammation
Understanding the pathogenesis of brain arteriovenous malformation: genetic variations, epigenetics, signaling pathways, and immune inflammation
Brain arteriovenous malformation (BAVM) is a rare but serious cerebrovascular disease whose pathogenesis has not been full...
Circulating DNA reveals a specific and higher fragmentation of the Y chromosome
Circulating DNA reveals a specific and higher fragmentation of the Y chromosome
Chromosome stability is a key point in genome evolution, particularly that of the Y chromosome. The Y chromosome loss in b...
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study
Exome and genome sequencing (ES/GS) in genetic medicine and research leads to discovering genomic secondary findings (SFs)...
The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review
The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review
Congenital hearing loss affects one in 500 newborns. Sequence variations in OTOF, which encodes the calcium-binding protei...
Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes
Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes
As one of the most common structural birth defects, orofacial clefts (OFCs) have been studied for decades, and recent stud...
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct
Enlargement of the endolymphatic sac, duct, and vestibular aqueduct (EVA) is the most common inner ear malformation identi...
Dyslexia-related loci are significantly associated with language and literacy in Chinese–English bilingual Hong Kong Chinese twins
Dyslexia-related loci are significantly associated with language and literacy in Chinese–English bilingual Hong Kong Chinese twins
A recent genome-wide association study on dyslexia in 51,800 affected European adults and 1,087,070 controls detected 42 g...
A founder DBR1 variant causes a lethal form of congenital ichthyosis
A founder DBR1 variant causes a lethal form of congenital ichthyosis
DBR1 encodes the only known human lariat debranching enzyme and its deficiency has been found to cause an autosom...
Assessing efficiency of fine-mapping obesity-associated variants through leveraging ancestry architecture and functional annotation using PAGE and UKBB cohorts
Assessing efficiency of fine-mapping obesity-associated variants through leveraging ancestry architecture and functional annotation using PAGE and UKBB cohorts
Inadequate representation of non-European ancestry populations in genome-wide association studies (GWAS) has limited oppor...
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an u...
Non-coding RNAs as skin disease biomarkers, molecular signatures, and therapeutic targets
Non-coding RNAs as skin disease biomarkers, molecular signatures, and therapeutic targets
Non-coding RNAs (ncRNAs) are emerging as biomarkers, molecular signatures, and therapeutic tools and targets for diseases....
Comparative neurogenetics of dog behavior complements efforts towards human neuropsychiatric genetics
Comparative neurogenetics of dog behavior complements efforts towards human neuropsychiatric genetics
Domestic dogs display a wide array of heritable behaviors that have intermediate genetic complexity thanks to a long histo...
Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia
Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia
Mutations in TDP2, encoding tyrosyl-DNA phosphodiesterase 2, have been associated with a syndromal form of autosomal reces...
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