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.
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480-510 / 1000+ results research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome
Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Isolation and characterization of a sheep cysteine-rich cuticle keratin pseudogene
Researchers found a non-functional sheep keratin gene due to mutations.
research Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss
A gene variant increases the risk of a type of hair loss by affecting hair protein production.
research Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy
Cinacalcet may help treat hereditary vitamin D resistant rickets safely.
research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
research AMPK Phosphorylates ZDHHC13 to Increase MC1R Activity and Suppress Melanomagenesis
AMPK activation may reduce melanoma risk in red-haired individuals.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Genetic variants in AR and SHBG and resistance to hormonal castration in prostate cancer
Certain genetic variants increase the risk of resistance to hormone therapy in prostate cancer patients.
research HPV8 Field Cancerization in a Transgenic Mouse Model Is due to Lrig1+ Keratinocyte Stem Cell Expansion
HPV8 causes skin cancer by expanding specific skin stem cells.
research Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
research Identificación de la variación molecular y genética subyacente a las enfermedades de la piel
Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
research GTL1 is required for a robust root hair growth response to avoid nutrient overloading
GTL1 is needed to control root hair growth and prevent problems when there are too many nutrients.
research A small multigene hydroxyproline-O-galactosyltransferase family functions in arabinogalactan-protein glycosylation, growth and development in Arabidopsis
Three genes in Arabidopsis are important for plant growth and development by affecting sugar attachment to proteins.
research [Genetic dissection of retinoic acid function in epidermis physiology].
Retinoic acid affects skin and hair health by working with specific receptors, and its absence can lead to hair loss and skin changes.
research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research Effect of gamma-ray exposure on the genome-editing efficiency of improved genome-editing via oviductal nucleic acids delivery (i-GONAD)
Gamma-ray exposure improves genome editing efficiency in mice using the i-GONAD method.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31
A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
research Epidermal expression of receptor for advanced glycation end products (RAGE) is related to inflammation and apoptosis in human skin
Skin RAGE levels are linked to inflammation and cell death.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency
A missing mK6irs1 gene causes hair loss in mice.