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research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
A new mutation in the Hairless gene causes hair loss in two Pakistani families.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research Characterisation of Ovine KRTAP19-3 and Its Impact on Wool Traits in Chinese Tan Sheep
Specific gene variants affect wool traits in Chinese Tan sheep.
research Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data
Hair greying is mainly influenced by age, with genetics playing a smaller role.
research Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research Polymorphism of genes in patients with new coronavirus infection COVID-19
Genetic differences affect COVID-19 severity and treatment effectiveness.
research Association between VEGF gene polymorphisms (11 sites) and polycystic ovary syndrome risk
Certain changes in the VEGF gene can increase or decrease the risk of polycystic ovary syndrome.
research Genetic analysis of interleukin 18 gene polymorphisms in alopecia areata
Certain IL-18 gene variations may increase the risk of alopecia areata.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research Alopecia Universalis Associated with a Mutation in the Human hairless Gene
A mutation in the human hairless gene causes alopecia universalis.
research Skipping of Exons by Premature Termination of Transcription and Alternative Splicing within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant
A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
research Molecular evolution of HR, a gene that regulates the postnatal cycle of the hair follicle
Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
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 The structure of hair and follicles of mice carrying the naked (N) gene
Mice with the naked gene have missing or abnormal hair cells.
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 Androgen receptor genetic variant predicts COVID‐19 disease severity: a prospective longitudinal study of hospitalized COVID‐19 male patients
A certain genetic variant in the androgen receptor may predict the severity of COVID-19 in men.
research Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research A Novel Gene Homologous to Teashirt is Differentially Expressed in Neonatal Mouse Skin During Development of Hair Follicles
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research Patients with Compound Heterozygous Mutations in Forkhead Box N1 have a Severe Immunodeficiency while Maintaining Normal Skin and Hair Development
Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
research Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
research Association of a polymorphism in the ornithine decarboxylase gene with male androgenetic alopecia
research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.