research Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
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research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a U2HR mutation
A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
research Future Directions: Gene Polymorphism Diagnostics Relevant to Hair
research Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research 311 Single-cell transcriptomics reveals distinct molecular programs in folliculotropic mycosis fungoides
Folliculotropic mycosis fungoides has unique molecular features and cell interactions that could guide targeted therapy.
research Association between VDR Gene Polymorphisms and Melanoma Susceptibility in a Colombian Population
Certain VDR gene changes can affect melanoma risk.
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 ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
research Methotrexate-associated lymphoproliferative disorder: Sequential development of angioimmunoblastic T-cell lymphoma-like lymphoproliferation in the lymph nodes and diffuse large B-cell lymphoma in the skin in the same patient
Stopping methotrexate might reverse lymphoma-like conditions in some patients.
research Matriptase/MT-SP1 is required for postnatal survival, epidermal barrier function, hair follicle development, and thymic homeostasis
research Hidradenitis suppurativa and Mediterranean fever gene mutations
Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
research Structural Stability of Wild Type and Mutated α-Keratin Fragments: Molecular Dynamics and Free Energy Calculations
The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
research Association between SQSTM1 dysregulation and risk in alopecia areata: a Mendelian randomization study
SQSTM1 gene issues may increase the risk of alopecia areata.
research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Mutation analysis of the typeIIhair keratin gene in a family of Han nationality with monilethrix
A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.
research Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease
Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
research Detection of NUDT15 R139C variants and azathioprine utilization in patients with dermatologic conditions
research 4 Vitamin D resistance
Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research The Naked (N) Mutation, Chromosome 15
The naked mutation in mice causes hair loss and helps identify keratin genes.
research Candidate Gene Analysis Of Alopecia Areata In Jordanian Population Of Arab Descent: A Case–Control Study
The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.
research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
research Association of Rs231775 Genetic Variant of Cytotoxic T-lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case–Control Study
The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.