research Polymorphisms in the promoter regions of the CXCL1 and CXCL2 genes contribute to increased risk of alopecia areata in the Korean population
Certain gene variations increase the risk of alopecia areata in Koreans.
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570-600 / 1000+ resultsresearch MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
Arab APS1 patients have unique and recurrent AIRE gene mutations.
research Toll-like Receptor 3 Agonist, Polyinosinic-polycytidylic Acid, Upregulates Carbonic Anhydrase II in Human Keratinocytes
A substance called poly(I:C) increases a protein called carbonic anhydrase II in skin cells, which might help with skin defense and healing.
research Cortisol Enhances the Expression of mac25/Insulin-Like Growth Factor-Binding Protein-Related Protein-1 in Cultured Osteoblasts**This work was supported by NIDDK Grant DK-45227 and a scholarship (to R.C.P.) from Fundacao Coordenacao de Aperfeicoa mento de Pessoal de Nivel Superior (CAPES), Universidade de Sao Paulo (Sao Paulo, Brazil).
Cortisol increases a specific protein in bone cells, which may help explain its negative effects on bone.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
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 Pili trianguli et canaliculi as a phenotypic subtype in patients with central centrifugal cicatricial alopecia: A scanning electron microscopy study
Hair shaft changes may be linked to CCCA, but their role is unclear.
research A new target for squamous cell skin cancer?
Prostaglandins and the enzyme AKR1C3 could play a role in skin cancer and hair loss, and further research is needed to understand these mechanisms.
research A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia
A specific gene change in APCDD1 increases the risk of hair loss.
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 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 STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research In vivo expression of VCAM1 precedes nephron loss following kidney tubular necrosis
VCAM1 appears early in kidney injury and signals future nephron loss.
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 Melanocortin receptors in fibroblastic cell types of the skin –in vitro and in vivo expression and functional relevance
MC-1R is present in skin cells and may help reduce inflammation.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research Unravelling the threads of central centrifugal cicatricial alopecia
Genetic factors, especially PADI3 gene variants, contribute to CCCA in women of African descent.
research 438 Laminin-511 is a new player in the development of psoriasis and controlled via cannabinoid receptor type 1
Laminin-511 is involved in psoriasis development and can be regulated by cannabinoid receptor type 1.
research Collagen XVIII regulates basement membrane integrity : specific effects of its isoforms on the choroid plexus, kidney and hair follicle
Collagen XVIII is crucial for maintaining tissue structure and function in the brain, kidneys, and hair.
research Integrin β1 Establishes Liver Microstructure and Modulates Transforming Growth Factor β during Liver Development and Regeneration
Integrin β1 is crucial for liver structure and function, preventing fibrosis.
research Characterization of a gene encoding a cysteine-rich keratin associated protein synthesized late in rabbit hair follicle differentiation
A rabbit gene important for hair development was identified and detailed.
research Genetic association of complement component 2 polymorphism with systemic lupus erythematosus
The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
research Localization and Expression of Cornifin-α/SPRR1 in Mouse Epidermis, Anagen Follicles, and Skin Neoplasms
research 848 Genes implicated in lipid & metabolic regulation downregulated in CCCA
848 genes related to fat and metabolism are less active in people with Central Centrifugal Cicatricial Alopecia.
research Case Report: A case of Rothmund–Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement
The patient's hair improved after treatment, but the genetic link is unclear.
research The structure of human trichohyalin : potential multiple roles as a functional ef-hand-like calcium-binding protein, a cornified cell envelope precursor, and an intermediate filament-associated (cross-linking) protein
Trichohyalin is a versatile protein involved in hair and skin structure.
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 Œdème angioneurotique sans anomalie de l’inhibiteur de la C1 estérase : efficacité de l’acide tranexamique
Tranexamic acid effectively reduced swelling episodes in a girl with a rare form of hereditary angioneurotic edema.
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.