research Highly Conserved Keratin-Associated Protein 7-1 Gene in Yak, Taurine and Zebu Cattle
The KRTAP7-1 gene is very similar across different cattle and yak breeds and likely plays a role in hair strength and shape.
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810-840 / 1000+ results research Deletions in the KAP6-1 gene are associated with fiber traits in cashmere-producing goats
Certain changes in the KAP6-1 gene affect the thickness and length of cashmere goat fibers.
research Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene
A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
research Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless
The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
research Altered expression of keratin 14 in lesional epidermis of autoimmune skin diseases
Keratin 14 may be an autoantigen in autoimmune skin diseases.
research Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution and Tumor Initiating Cells
Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
research Premature aging and cancer development in transgenic mice lacking functional CYLD
Lack of functional CYLD in mice leads to early aging and cancer.
research Promotion of Skin Carcinogenesis by Dimethylarsinic Acid in Keratin (K6)/ODC Transgenic Mice
Dimethylarsinic acid speeds up skin tumor growth in certain mice.
research Genetic analysis of the role of androgen metabolism in the pathogenesis of prostate cancer
Certain genetic markers can indicate a person's risk of developing prostate cancer.
research Life before and beyond blistering: The role of collagen XVII in epidermal physiology
Collagen XVII is vital for skin structure, hair stem cell support, and skin cell regulation.
research Abstract 5219: The role of MEK and Antizyme in keratinocyte stem cell expansion and differentiation
Antizyme reduces tumor growth and normalizes skin cell development affected by MEK.
research ROLE OF STAT3 IN KERATINOCYTE STEM CELLS DURING SKIN TUMORIGENESIS
Stat3 affects skin cancer development by altering keratinocyte stem cell behavior.
research Regulation of a hair follicle keratin intermediate filament gene promoter
The LEF-1 binding site enhances gene expression in hair follicles, with other proteins aiding specific regulation.
research A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
research Human Hair Keratin-Associated Proteins
Hair keratin-associated proteins are essential for strong hair, with over 80 genes showing specific patterns and variations among people.
research The HOXC13-controlled expression of early hair keratin genes in the human hair follicle does not involve TALE proteins MEIS and PREP as cofactors
research The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Clinical Snippets
Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research AP-1 and TGFß cooperativity drives non-canonical Hedgehog signaling in resistant basal cell carcinoma
AP-1 and TGFß work together to drive resistance in basal cell carcinoma, suggesting new treatment options.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research The role of Twist1 in UVB-induced skin carcinogenesis
Deleting Twist1 in skin cells reduces UVB-induced skin cancer risk.
research Increased frequency of heterozygoshy for the 21 hydroxylase deficiency among hersute females
Women with excessive hair growth or polycystic ovary disease may more often carry a gene variant for 21 hydroxylase deficiency.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research Twist1 is required for the development of UVB‐induced squamous cell carcinoma
Twist1 is crucial for UVB-induced skin cancer development.
research 068 Pathogenic Th17 cells, CD8+CD69+CD49a- tissue-resident memory T cells and common γ chain receptor + natural killer cells express more IL-17, compared to IFN-γ, under the foxp3+ memory regulatory T cells-depleted microenvironment in patients with chronic alopecia areata
IL-17 plays a key role in severe hair loss in chronic alopecia areata.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research Lineage commitment of dermal fibroblast progenitors is controlled by Kdm6b‐mediated chromatin demethylation
Kdm6b is crucial for skin cell differentiation.
research PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.