research Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
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GPC1 is important for blood vessel growth in hair follicles and could help treat hair loss.
research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
research 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia
CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
research Cloning and Expression of Cellular Retinoic Acid Binding Protein I Gene in Inner Mongolian Cashmere Goats
The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
research Sequence Analysis and Expression of a TypeIHair Keratin Gene in Goat Skin
The goat hair keratin gene is very similar to sheep's and is strongly expressed in goat hair follicles.
research Association of a polymorphism in the ornithine decarboxylase gene with male androgenetic alopecia
research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
research Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
Lack of cystatin M/E causes thin hair and dry skin.
research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21
A cluster of sulfur-rich hair protein genes was found on chromosome 17.
research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
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 Expression of TGF Beta Receptor 1 in Sika Deer Antler
TGF-β receptor 1 helps deer antlers grow by aiding skin and cartilage cell growth.
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 PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research P5 Assembly of hair keratins in thansfected cultured cells
research Inducible Cutaneous Inflammation Reveals a Protumorigenic Role for Keratinocyte CXCR2 in Skin Carcinogenesis
CXCR2 in skin cells promotes tumor growth.
research An Unusual Ala12Thr Polymorphism in the 1A α-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae
research Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous
Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
research Regulation and Role of GLI1 in Cutaneous Squamous Cell Carcinoma Pathogenesis
GLI1 might protect against the start of skin cancer and is not linked to cancer severity.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene causes monilethrix in a Han family.
research The TNFRSF1B Connection: Implications for Androgenetic Alopecia Pathogenesis and Treatment
Targeting the TNFRSF1B gene may help treat hair loss.
research Caspase-1 Level Is Higher in the Scalp in Androgenetic Alopecia
Higher caspase-1 levels found in balding scalps; reducing it may help treat hair loss.
research Polymorphisms in the Human High Sulfur Hair Keratin-associated Protein 1, KAP1, Gene Family
Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
research CLED: A Calcium-Linked Protein Associated with Early Epithelial Differentiation
research 25 Hydroxyvitamin D 1 α-Hydroxylase Is Required for Optimal Epidermal Differentiation and Permeability Barrier Homeostasis
The enzyme 25 Hydroxyvitamin D 1 α-Hydroxylase is essential for healthy skin and recovery after skin damage.
research O19 CYLD cutaneous syndrome tumours demonstrate increased NF-κB signalling and diminished collagen organisation.
Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
research Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research 1300 Blood plasma levels of heart disease biomarker cardiac troponin I are significantly increased in alopecia areata affected individuals
People with alopecia areata have higher levels of a heart disease marker in their blood.