research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
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480-510 / 1000+ resultsresearch Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
research PD-1+CXCR5−CD4+T cells are correlated with the severity of systemic lupus erythematosus
Tph cells are linked to the severity of systemic lupus erythematosus.
research Keratinocytes of the Upper Epidermis and Isthmus of Hair Follicles Express Hemoglobin mRNA and Protein
Skin cells and certain hair follicle areas produce hemoglobin, which may help protect against oxidative stress like UV damage.
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 A kindred with mutant IKAROS and autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
research Image 1_Resident T cell activation leads to human hair follicle immune privilege loss ex vivo, which is prevented by the DHODH inhibitor farudodstat: relevance for alopecia areata.pdf
Farudodstat can prevent hair follicle immune damage linked to alopecia areata.
research Elevation of circulating DNAs of disease-associated cytokines in serum cell-free DNA from patients with alopecia areata
Higher levels of certain DNAs in blood may indicate hair follicle damage in alopecia areata patients.
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research Anti-DFS70 sebagai Penanda Kejadian Autoimun Nonsistemik (Primary Billiar Cholangitis) pada Systemic Lupus Erythematosus
Anti-DFS70 antibodies can help identify nonsystemic autoimmune conditions in SLE patients.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Hypomorphic mutation in the hairless gene accelerates pruritic atopic skin caused by feeding a special diet to mice
A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
research Association of single nucleotide polymorphisms in the RAB5B gene 3′UTR region with polycystic ovary syndrome in Chinese Han women
Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
research Genome-based analysis of the genetic pattern of black sheep in Qira sheep
Black wool in Qira sheep is linked to specific gene mutations, especially in the TYRP1 gene.
research Immunochemical studies on blood group A substance from human hair
Human hair contains a substance that shows blood group A activity.
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 A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia
Researchers created a mouse model of a type of rickets that does not cause hair loss.
research Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain
The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
research Alopecia in Harlequin mutant mice is associated with reduced AIF protein levels and expression of retroviral elements
Harlequin mutant mice have hair loss due to low AIF protein levels and retroviral element activity.
research Down-RANKing the Threat of HSV-1: RANKL Upregulates MHC-Class-I-Restricted Anti-Viral Immunity in Herpes Simplex Virus Infection
RANKL improves the immune response against herpes simplex virus by enhancing T cell activation and could help develop better treatments or vaccines.
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 Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research 120 Identification of post-translationally modified trichohyalin epitopes responsible for triggering autoimmunity in alopecia areata
Trichohyalin in hair can trigger immune attacks in alopecia areata.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research Type 1 interferon signature in the scalp lesions of alopecia areata
Alopecia areata shows a unique type 1 interferon signature, suggesting potential treatment by targeting this pathway.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.