research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
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540-570 / 1000+ results 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 Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research KRT16 wt Allele
Mutations in the KRT16 gene can cause skin and nail disorders.
research WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation
A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
research 441 RPGRIP1L facilitates desmosomal adhesion through suppressing PKCβII-mediated desmoglein endocytosis: Implication in pemphigus
RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
A specific gene mutation causes complete hair loss without other health issues.
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 Human KAP Genes, Only the Half of it? Extensive Size Polymorphisms in Hair Keratin-Associated Protein Genes
KAP genes show significant genetic variability, but its impact on hair traits is unclear.
research Integrative analysis of rare copy number variants and gene expression data in alopecia areata implicates an aetiological role for autophagy
The research suggests that autophagy-related genes might play a role in causing alopecia areata.
research Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia
Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
research ICP5249 Promotes Hair Growth by Activating the AMPK-Autophagy Signaling Pathway
ICP5249 helps hair grow by activating a specific cell pathway.
research Adam10 haploinsufficiency causes freckle-like macules in Hairless mice
A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
research Genome-wide association study in alopecia areata implicates both innate and adaptive immunity
Alopecia areata involves both innate and adaptive immunity, with specific genes linked to the disease.
research Identification of Androgen-Inducible TGF-β1 Derived from Dermal Papilla Cells as a Key Mediator in Androgenetic Alopecia
TGF-β1 from dermal papilla cells suppresses hair growth, and targeting it may help treat androgenetic alopecia.
research The pivotal role of PDGF and its receptor isoforms in adipose-derived stem cells.
PDGF and its receptors are crucial for stem cell growth and function.
research Pachyonychia Congenita-Associated Alopecia. A Microscopic Analysis Using Transverse Section Technique
PC-associated alopecia has unique microscopic features.
research HR Gene Variants Identified in Mexican Patients with Alopecia Areata
A specific gene variant may increase the risk of developing Alopecia Areata.
research Central Centrifugal Cicatricial Alopecia (CCCA): Unraveling the Complexities of a Scarring Hair Disorder
CCCA is a scarring hair disorder mainly affecting people of African descent, needing better awareness and treatment.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Epidermal Differentiation Enhances CRABP II Expression in Human Skin
research Generation of a Novel Inducible and Dermal Papilla‐Specific Wif1‐CreER Knock‐In Mouse Line for Hair Follicle Research
A new genetic tool improves the study of hair growth and potential hair disorder treatments.
research Human Derived Immortalized Dermal Papilla Cells With a Constant Expression of Testosterone Receptor
Researchers created immortal human skin cells with constant testosterone receptor activity to study hair loss and test treatments.
research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research Histone deacetylase 1 in patients with alopecia areata and acne vulgaris: An epigenetic alteration
Higher HDAC1 levels in alopecia areata suggest HDAC inhibitors might help treat it and acne.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Cloning of a putative keratin-associated protein cDNA expressed in various mouse tissues other than hair follicles
Keratin-associated proteins may have roles in various mouse tissues, not just hair.
research 570 Targeting phosphodiesterase 8A (PDE8A) to boost adipogenesis and hair regeneration
Inhibiting PDE8A may help treat hair loss by boosting fat cell growth and hair regeneration.
research Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
research CD271 orchestrates skin structure, differentiation, and inflammation via PI3K/Akt and PKCα/ERK pathways
CD271 is crucial for maintaining healthy skin and preventing inflammation.