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Expanding the genetic and phenotypic spectrum of Baker–Gordon syndrome: a new de novo SYT1 variant
Expanding the genetic and phenotypic spectrum of Baker–Gordon syndrome: a new de novo SYT1 variant
We report the case of a Spanish pediatric patient with developmental delay, hypotonia, feeding difficulties, visual proble...
A global evaluation of mitochondrial DNA diversity and distribution of dromedary, Camelus dromedarius from north-central Saudi Arabia
A global evaluation of mitochondrial DNA diversity and distribution of dromedary, Camelus dromedarius from north-central Saudi Arabia
Knowledge of genetic variability within and among types and breeds of dromedary (Camelus dromedarius L.) can be a valuable...
COQ7 splice site variant causing a spastic paraparesis phenotype in siblings
COQ7 splice site variant causing a spastic paraparesis phenotype in siblings
The COQ7 gene is one of the causative genes for primary COQ10 deficiency-related disorders. OMIM-related phenotypes includ...
miR-7160 inhibits gastric cancer cell proliferation and metastasis by silencing SIX1
miR-7160 inhibits gastric cancer cell proliferation and metastasis by silencing SIX1
Upregulation of homeoprotein SIX1 in gastric cancer (GC) is related to tumour proliferation and invasion. MicroRNA-7160 (m...
A novel missense variant in PNLDC1 associated with nonobstructive azoospermia
A novel missense variant in PNLDC1 associated with nonobstructive azoospermia
The most severe type of male infertility is nonobstructive azoospermia (NOA), where there is no sperm in the ejaculate due...
Assessment of the contribution of VDR and VDBP/GC genes in the pathogenesis of celiac disease
Assessment of the contribution of VDR and VDBP/GC genes in the pathogenesis of celiac disease
Vitamin-D deficiency (VDD) is a global health concern. It is known to play a critical role in the immunomodulation, and th...
A novel intron variant in the prolactin gene associated with eggshell weight and thickness with putative alternative splicing patterns in chickens
A novel intron variant in the prolactin gene associated with eggshell weight and thickness with putative alternative splicing patterns in chickens
Raising Iraqi indigenous chickens (IIC) is restricted by their thin and low eggshell weights. Due to the importance of the...
Germline genetic variants in a case of familial cancer: RAD51D and four other co-segregated variants
Germline genetic variants in a case of familial cancer: RAD51D and four other co-segregated variants
Cancer is a multifactorial, multi-step process of pathogenesis; however, in the case of familial cancers, genetic aetiolog...
Genetic analysis of a child with severe intellectual disability caused by a novel variant in the FERM domain of the FRMPD4 protein
Genetic analysis of a child with severe intellectual disability caused by a novel variant in the FERM domain of the FRMPD4 protein
Intellectual developmental disorder, X-linked 104 (XLID104), caused by the FRMPD4 gene variant, is a rare X-linked genetic...
Genetic characterization and linkage analysis of spotted leaf 6, liguleless and lax panicle traits in mutant rice
Genetic characterization and linkage analysis of spotted leaf 6, liguleless and lax panicle traits in mutant rice
Phenotypic mutants are valuable resources for elucidating the function of genes responsible for their expression. This stu...
The first complete mitochondrial genome of the critically endangered Malaysian giant turtle, Orlitia borneensis (Testudines: Geoemydidae)
The first complete mitochondrial genome of the critically endangered Malaysian giant turtle, Orlitia borneensis (Testudines: Geoemydidae)
We present here the complete mitochondrial sequence of the critically endangered Malaysian giant turtle, Orlitia borneensi...
Mitogenome features and phylogenetic analysis of red algae, Grateloupia cornea (Rhodophyta, Halymeniales)
Mitogenome features and phylogenetic analysis of red algae, Grateloupia cornea (Rhodophyta, Halymeniales)
The mitogenome is an important tool for taxonomic and evolutionary investigation. Here, a few complete mitogenomes of red ...
Extraction of genomic DNA for sequencing from snail Helix lucorum
Extraction of genomic DNA for sequencing from snail Helix lucorum
Genomic studies make it possible to breakthrough in many fields such as biochemistry, physiology, phylogenetics, etc., tho...
Special clinical entity with 15q26 deletion: a novel case report
Special clinical entity with 15q26 deletion: a novel case report
In the past, there were no easily distinct and recognizable features as a guide for precise clinical and genetic diagnosis...
Detection of caudal type homeobox 1 (CDX1) gene methylated DNA, as a stool-based diagnostic biomarker in colorectal cancer
Detection of caudal type homeobox 1 (CDX1) gene methylated DNA, as a stool-based diagnostic biomarker in colorectal cancer
Colorectal cancer (CRC) is known to develop due to the accumulation of both genetic and epigenetic alterations, resulting ...
The effect of modification of DNA interference on myostatin gene expression in mice
The effect of modification of DNA interference on myostatin gene expression in mice
Myostatin is a known negative regulator of muscle tissue growth. Thus, an inhibitor of myostatin may be therapeutically us...
Molecular data reveals a new genus of blindsnakes within Asiatyphlopinae from India
Molecular data reveals a new genus of blindsnakes within Asiatyphlopinae from India
The genus Indotyphlops has a widespread distribution in the Indian landmass and Southeast Asia, with 20 reported species. ...
FSTest: an efficient tool for cross-population fixation index estimation on variant call format files
FSTest: an efficient tool for cross-population fixation index estimation on variant call format files
Fixation index (Fst) statistics provide critical insights into evolutionary processes affecting the structure of genetic v...
Two novel heterozygous ADCY10 variants identified in Chinese pediatric patients with absorptive hypercalciuria: case report and literature review
Two novel heterozygous ADCY10 variants identified in Chinese pediatric patients with absorptive hypercalciuria: case report and literature review
Absorptive hypercalciuria (AH) is a prevalent cause of kidney stones, and the adenylate cyclase 10 (ADCY10) gene is a rare...
Transferability of Nikita and Sukkula retrotransposons in domestic goose (Anser anser domesticus) genome
Transferability of Nikita and Sukkula retrotransposons in domestic goose (Anser anser domesticus) genome
This article aimed to detect the existence of barley-specific Nikita and Sukkula retrotransposons in domestic geese sample...
Role of VDR gene polymorphisms and vitamin D levels in normal and overweight patients with PCOS
Role of VDR gene polymorphisms and vitamin D levels in normal and overweight patients with PCOS
Polycystic ovary syndrome (PCOS) is one of the most common endocrine diseases in women. In recent years, the effects of vi...
Genomewide architecture of adaptation in experimentally evolved Drosophila characterized by widespread pleiotropy
Genomewide architecture of adaptation in experimentally evolved Drosophila characterized by widespread pleiotropy
Dissecting the molecular basis of adaptation remains elusive despite our ability to sequence genomes and transcriptomes. A...
Efficient assembly of a synthetic attenuated SARS-CoV-2 genome in Saccharomyces cerevisiae using multi-copy yeast vectors
Efficient assembly of a synthetic attenuated SARS-CoV-2 genome in Saccharomyces cerevisiae using multi-copy yeast vectors
Saccharomyces cerevisiae has been demonstrated to be an excellent platform for the multi-fragment assembly of large DNA co...
Characters of the MOCA family in wheat and TaMOCA1 function in salt stress tolerance
Characters of the MOCA family in wheat and TaMOCA1 function in salt stress tolerance
MOCA1 encodes the last key glucuronosyltransferase for ionic stress sensor glycosyl inositol phosphoryl-ceramide (GIPCs) b...
Estimation of genetic diversity of the exotic Indian trout populations by using microsatellite markers
Estimation of genetic diversity of the exotic Indian trout populations by using microsatellite markers
Rainbow trout (Oncorhynchus mykiss) and brown trout (Salmo trutta fario) are popular salmonid species that are reared for ...
Genomic determinants of antibody response to a typhoid vaccine in Indian recipients
Genomic determinants of antibody response to a typhoid vaccine in Indian recipients
Typhoid is endemic in India and has high global incidence. There were large outbreaks of typhoid in India between 1990 and...
Multiple mutations in BADH2 gene reveal the novel fragrance allele in indica rice (Oryza sativa L.)
Multiple mutations in BADH2 gene reveal the novel fragrance allele in indica rice (Oryza sativa L.)
The aroma in rice is the most appreciable quality trait, controlled by the loss of function of the betaine aldehyde dehydr...
Genetic diversity analysis of volunteer wheat based on SSR markers
Genetic diversity analysis of volunteer wheat based on SSR markers
Volunteer wheat is a kind of wheat with weed characteristics, distributed widely in the main wheat-producing areas of Chin...
Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity
Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity
Inborn errors of immunity may present with autoimmunity and autoinflammation as hallmark clinical manifestations. We aimed...
Exploring the influences of geographical variation on sequence signatures in the human gut microbiome
Exploring the influences of geographical variation on sequence signatures in the human gut microbiome
Geography shapes the structure and function of human gut microbiomes. In this study, we have explored the available human ...
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