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.
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360-390 / 1000+ results research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
The condition is linked to chromosome 12, but no mutations were found in the known genes.
research Identification of androgen-regulated genes in SV40-transformed human hair dermal papilla cells
Hsc70 protein may influence hair growth by responding to androgens.
research Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle
Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
research A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research Structure and site of expression of a murine type II hair keratin
A specific type II hair keratin was identified and found in hair cortex and tongue cells.
research Stress-induced chemokine production by hair follicles recruits dendritic cells to sites of minor trauma
Hair follicles help attract immune cells to minor skin injuries.
research Immunochemical studies on blood group A substance from human hair
Human hair contains a substance that shows blood group A activity.
research Identification of Potential Hub Genes in Alopecia Areata
CD8A and FOXD2-AS1 may be key for diagnosing and treating alopecia areata.
research Vitamin D‐dependent rickets type I and type II
VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
research Supplementary Material for: Plasma proteome–driven identification of druggable immune regulators of alopecia areata, validated by transcriptome and single-cell mapping
CD28 is a promising target for treating alopecia areata with belatacept.
research Supplementary Material for: Plasma proteome–driven identification of druggable immune regulators of alopecia areata, validated by transcriptome and single-cell mapping
CD28 is a promising target for treating alopecia areata with belatacept.
research Localized syringolymphoid hyperplasia with alopecia and anhidrosis
SLHA can be hard to diagnose and needs teamwork between specialists.
research Reply to ‘CD123 immunohistochemistry for plasmacytoid dendritic cells is useful in the diagnosis of scarring alopecia’: three PDC-related parameters are useful in differentiating lupus alopecia from LPP
Three characteristics of plasmacytoid dendritic cells help tell apart lupus-related hair loss from LPP.
research Altered expression of intracellular Toll-like receptors in peripheral blood mononuclear cells from patients with alopecia areata
Increased Toll-like receptors in blood cells may contribute to alopecia areata and could be a target for new treatments.
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 033 IL-15 is an unexpected guardian of hair follicle immune privilege and promotes human hair growth ex vivo
IL-15 helps protect hair follicles from immune attacks and encourages hair growth.
research P23 A case of visceral leishmaniasis presenting as seropositive erosive rheumatoid arthritis in an immunocompromised patient
Visceral leishmaniasis can mimic rheumatoid arthritis symptoms, especially in immunocompromised patients.
research In vitro analyses of CD4-protein function in dedifferentiated keratinocyte cell lines
The CD4 protein may play a role in the behavior of certain skin cells, affecting their growth, movement, and differentiation.
research Application of histamine receptors H2R, H3R and H4R, but not H1R, in dermatology
Certain histamine receptors (H2R, H3R, H4R) have unique roles in treating skin diseases, with H2R helping with chronic urticaria and other conditions, H3R providing pain relief and allergy benefits, and H4R reducing inflammation and itchiness.
research Th1/Th2 PB balance and CD200 expression of patients with active severe alopecia areata
Patients with severe active alopecia areata have lower CD200 expression and an imbalance in their immune system.
research The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein
The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
research Hairless: A nuclear receptor corepressor essential for skin function
The Hairless gene is crucial for healthy skin and hair growth.
research Human dermal Vδ1 + T-cells recognize “stressed” HFs and may induce alopecia areata
Certain immune cells may cause hair loss by reacting to stressed hair follicles.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.