research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
Search
for
Sort by
Research
300-330 / 1000+ results
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research Steroidogenesis of the testis – new genes and pathways
New genes and pathways are important for testosterone production and male sexual development.
research Genotype score associated with the risk of androgenetic alopecia.
research Identification of Candidate Genes for Min Pig Villi Hair Traits by Genome-Wide Association of Copy Number Variation
Researchers found genes that may explain why some pigs grow winter hair, which could help breed cold-resistant pigs.
research Decision letter: Loss of Dnmt3a and Dnmt3b does not affect epidermal homeostasis but promotes squamous transformation through PPAR-γ
Loss of Dnmt3a and Dnmt3b increases aggressive skin tumors by affecting PPAR-γ.
research Disease causing homozygous variants in the human hairless gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Hoxc13 mutant mice lack external hair
Hoxc13 gene is essential for hair, nail, and papilla development.
research Generation of Genetically Modified Rats Using CRISPR/Cas9 Genome-Editing System to Reveal Novel Vitamin D Actions
Genetically modified rats help reveal how vitamin D affects bone and skin health.
research Characterization of Rickets Type II Model Rats to Reveal Functions of Vitamin D and Vitamin D Receptor
The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.
research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research DNA phenotyping: current application in forensic science
DNA phenotyping helps predict physical traits from DNA with varying accuracy and requires careful ethical and legal handling.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
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 Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Variant 1859G→A (Arg620Gln) of the “Hairless” Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia
Haplogroup X found in Altaian population supports Amerindian origin.
research Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
research A Novel Gene Homologous to Teashirt is Differentially Expressed in Neonatal Mouse Skin During Development of Hair Follicles
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Diverse northern Asian and Jomon-related genetic structure discovered among socially complex Three Kingdoms period Gaya region Koreans
The DNA of ancient Koreans from the Three Kingdoms period shows a mix of northern Chinese and Japanese-Jomon ancestry, revealing two distinct genetic groups.
research Unraveling the Molecular Mechanism of Bider Marking Formation in Dun Mongolian Horses Through Transcriptome Sequencing
"Bider" markings in Dun Mongolian horses are caused by a complex network of genes and pathways.
research Long-term live imaging of theDrosophilaadult midgut reveals real-time dynamics of cell division, differentiation, and loss
Researchers can now observe live cell processes in the Drosophila midgut for extended periods.
research Scraggly, a new hair loss mutation on mouse Chromosome 19
The scraggly mutation causes hair loss and skin defects in mice.
research A new familial presentation of dissecting cellulitis: The genetic implications on scarring alopecias
Dissecting cellulitis may have genetic links and can cause permanent hair loss.
research Concerted gene duplications in the two keratin gene families
research A 4kb Fragment of the Desmocollin 3 Promoter Directs Reporter Gene Expression to Parakeratotic Epidermis and Primary Hair Follicles
A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
research 458 UVB-induced facultative pigmentation is associated with distinct DNA methylation changes
Tanning ability is linked to specific DNA changes in skin genes.
research Molecular genetics of androgen insensitivity
Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.