research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
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630-660 / 1000+ resultsresearch [The Netherton syndrome with alopecia and prolinuria].
Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
research Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
research Expression and tissue distribution analysis of vimentin and transthyretin proteins associated with coat colors in sheep (Ovis aries)
Vimentin and transthyretin proteins are linked to black coat color in sheep.
research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
A mutation in the KRT74 gene causes tightly curled hair.
research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Epitopes, avidity and IgG subclasses of tyrosine hydroxylase autoantibodies in vitiligo and alopecia areata patients
TH antibodies in vitiligo and AA patients recognize the same protein parts.
research Generalized trichoepitheliomas with alopecia and myasthenia gravis: Clinicopathologic and immunohistochemical study and comparison with classic and desmoplastic trichoepithelioma
Generalized trichoepitheliomas with hair loss may indicate myasthenia gravis.
research Analogs of human genetic skin disease in domesticated animals
Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
research Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality
The ZIP13 variant is linked to abnormal hair quality.
research Pilot study: genetic distribution of AR, FGF5, SULT1A1 and CYP3A5 polymorphisms in male Mexican population with androgenetic alopecia.
Certain genetic variations are linked to hair loss in Mexican men.
research Polarized microscopy in genetic hair disorders: case series
Polarized microscopy helps identify hair irregularities in genetic disorders.
research Genetic Association Between Polycystic Ovary Syndrome and the APOA5 rs662799 and PLIN1 rs894160 Metabolic Variants in the Western Saudi Population: A Case-Control Study
Certain genetic variants may increase the risk of developing PCOS.
research Genetic association of HLA‐DQB1 and HLA‐DRB1 polymorphisms with alopecia areata in the Italian population
The DQB1*03 allele is linked to higher alopecia areata risk in Italians.
research Sequence Variation in Caprine KRTAP6-2 Affects Cashmere Fiber Diameter
Different versions of the KRTAP6-2 gene in goats can lead to thinner cashmere fibers.
research Osteopontin Gene Polymorphisms rs1126616 C>T and rs1126772 A>G are Associated with Atopic Dermatitis in Polish Population
Certain gene changes in osteopontin are linked to higher risk of atopic dermatitis and asthma.
research Interleukin 15 Gene Polymorphism in patients with Alopecia Areata
Targeting IL-15 may help treat Alopecia Areata.
research A novel human type I hair keratin gene: evidence for two keratin hHa3 isoforms
Scientists discovered two versions of a new human hair keratin gene.
research Editor's evaluation: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma
Keratinocytes can reduce the survival of certain melanoma cells, suggesting new therapy paths.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
research Association of Human Beta – Defensin 1 Gene Polymorphisms with Alopecia Areata Patients
Certain gene variations may increase the risk and severity of alopecia areata.
research The association of Wnt – Factor TCF7L2 (TCF4) gene polymorphism and treated Alopecia Areata (Platelet rich plasma Vs conventional)
TCF7L2 gene polymorphism is linked to alopecia areata, but it doesn't affect the success of PRP or conventional treatments.
research Carbon-13 n.m.r. studies of keratin intermediate filament of human hair
Human hair keratin has a 40% α-helix structure that changes to a random coil in 8 M urea.
research Type II Keratins Are Phosphorylated on a Unique Motif during Stress and Mitosis in Tissues and Cultured Cells
Type II keratins are uniquely phosphorylated during stress and mitosis, affecting their structure and function.
research Linear morphea alopecia: New trichoscopy findings
Trichoscopy can reveal specific hair and scalp changes in linear morphea.