research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
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450-480 / 1000+ resultsresearch Bioinformatics analysis of evolutionary characteristics and biochemical structure of FGF5 Gene in sheep
Editing the FGF5 gene in sheep increases wool length, confirming its role in hair growth.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
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 Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes
The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
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 A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
A mutation in the KRTHB5 gene causes hair and nail issues.
research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Distinguishing Mouse Strains by Proteomic Analysis of Pelage Hair
Proteomic analysis can identify genetic differences in mouse hair, helping understand hair defects and variations.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Structural and biochemical changes underlying a keratoderma-like phenotype in mice lacking suprabasal AP1 transcription factor function
Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
research Taking advantage from phenotype variability in a local animal genetic resource: identification of genomic regions associated with the hairless phenotype in Casertana pigs
Researchers found two genes that may explain why some Casertana pigs don't have hair.
research SlPHL1 , a MYB‐CC transcription factor identified from tomato, positively regulates the phosphate starvation response
SIPHL1 from tomato enhances plants' response to low phosphate levels.
research Null Mutation of 5α-Reductase Type I Gene Alters Ethanol Consumption Patterns in a Sex-Dependent Manner
research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
research Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype
Mutations in the Sgk3 gene cause fuzzy hair in mice.
research Molecular Genetics of Alopecias
Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.
research Severe metabolic disorders coexisting with Werner syndrome: a case report
A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
research A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
A specific gene mutation causes long hair in Angora rabbits.
research Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep
Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis
Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
research The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein
The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
research Network analysis reveals potential mechanisms that determine the cellular identity of keratinocytes and corneal epithelial cells through the Hox/Gtl2-Dio3 miRNA axis
Hox proteins help maintain keratinocyte identity by regulating miRNA expression.
research 1429 Proteomic analysis of cultured dermal papilla, dermal sheath and dermal fibroblast cells from female scalp highlights alterations in the cell populations with increasing age
Protein analysis shows aging changes in scalp cell types from women.
research Compound Heterozygous Mutations in Forkhead Box N1 (FOXN1) Lead to a Severe Immunodeficiency but Normal Hair and Nail Development in Patients
Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
research Proteomic analysis of hair shaft and nail plate.
Hair and nail proteins, mainly keratins, are crucial for structure and can indicate health issues.