research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
Search
for
Sort by
Research
330-360 / 1000+ results research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Genome-wide association study for cashmere traits in Inner Mongolia cashmere goat population reveals new candidate genes and haplotypes
New genes and markers can help breed better cashmere goats.
research Comparative genome analyses reveal the unique genetic composition and selection signals underlying the phenotypic characteristics of three Chinese domestic goat breeds
Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
research Diffuse congenital hypotrichosis simplex with associated hair shaft fragility
The document's conclusion cannot be provided because the document is not available or cannot be understood.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Hidradenitis suppurativa and Mediterranean fever gene mutations
Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
research DEVELOPMENTAL AND EVOLUTIONARY COMPARATIVE ANALYSIS OF A REGULATORY LANDSCAPE IN MAMMALS AND BIRDS
Hoxd gene regulation in mammals and birds is robust despite differences in DNA sequences, due to 3D chromatin structures.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Sequence analyses of Type I and Type II chains in human hair and epithelial keratin intermediate filaments: Promiscuous obligate heterodimers, Type II template for molecule formation and a rationale for heterodimer formation
Type I and Type II keratin chains can form heterodimers despite sequence differences.
research Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation
Msx2 deficiency in mice leads to bone growth and organ development problems.
research Familial congenital generalized hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
research CSI on steroids
Forensic DNA phenotyping can help generate new leads in cold cases but faces accuracy, legal, and acceptance challenges.
research Genomic Inbreeding and Runs of Homozygosity Analysis of Cashmere Goat
Inner Mongolia cashmere goats have the lowest inbreeding, aiding future breeding and conservation.
research Cloning and sequence analysis of KAP 6.1 gene in Xinjiang fine-wool sheep
Researchers cloned a gene from Xinjiang fine-wool sheep, finding it very similar to other sheep and somewhat similar to goats, humans, and rabbits.
research 516 Dynein is involved in the movement, distribution, acidity, and transfer of melanosomes
Dynlt3 is important for melanosome transport and skin coloration.
research Identification of seven new prostate cancer susceptibility loci through a genome-wide association study
Seven new genetic risk areas for prostate cancer were found.
research Genetic Fate Mapping Using Site-Specific Recombinases
The document concludes that careful design of genetic fate mapping experiments is crucial for accurate cell lineage tracing in mice.
research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing
The study found genetic variations in sheep that affect traits like milk production, growth, and health.
research Polymorphisms and association of FAT1 gene with wool quality traits in Chinese Merino sheep
The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.
research Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research Electron microscopic observation of skin and hair on a case of Netherton syndrome
Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
research Hair root studies in patients suffering from primary and secondary syphilis
Syphilis patients showed abnormal hair root changes, with no difference between primary and secondary stages.
research BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis
The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
research Cloning of the human phenol sulfotransferase gene family: three genes implicated in the metabolism of catecholamines, thyroid hormones and drugs
Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.