research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
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360-390 / 1000+ resultsresearch Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research Decision letter: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 helps retinal cells respond to signals for eye development.
research BMP4 and nuclear laminC orchestrate a expression of AHF/Trichohyalin molecule, a key modulator of keratin intermediate filaments in the hair follicle
research A group of type I keratin genes on human chromosome 17: characterization and expression.
Only one K16 gene on chromosome 17 makes a functional keratin protein.
research CD10 immunohistochemistry in prurigo nodularis
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 ISID1374 – Cell-cell interaction in the hair follicle niche in androgenetic alopecia.
research Genomic and phenotypic characterization of Investigator Global Assessment (IGA) scale-based endotypes in atopic dermatitis
Different types of atopic dermatitis were linked to specific genetic and immune changes, suggesting that severe cases might need stronger immune-targeting treatments.
research Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research Intestinal Intraepithelial Lymphocytes: Sentinels of the Mucosal Barrier
Intestinal intraepithelial lymphocytes are crucial for gut immunity and maintaining the mucosal barrier.
research 570 DNA dioxygenases Tet1/2/3 control cell differentiation in the hair follicle keratinocytes via modulating the activity of BMP signaling pathway
Tet1/2/3 enzymes affect hair follicle cell development by influencing BMP signaling.
research LB708 ILC1-like innate lymphocytes in human autoimmunity: Lessons from Alopecia Areata
ILC1-like cells can cause alopecia areata by disrupting hair follicle immunity, suggesting a new treatment approach.
research ISID1373 - Expression of programmed cell death 1 inversely correlated with the density of CD8+ T cells infiltrating hair follicles in alopecia areata
Higher PD-1 levels mean fewer CD8+ T cells in alopecia areata hair follicles.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research Direct implantation of hair-follicle-associated pluripotent (HAP) stem cells repairs intracerebral hemorrhage and reduces neuroinflammation in mouse model
Implanting hair-follicle stem cells in mice brains helped repair brain bleeding and reduced brain inflammation.
research Therapeutic Potential of Patient iPSC-Derived iMelanocytes in Autologous Transplantation
Patient-derived melanocytes can potentially treat vitiligo by restoring skin pigmentation.
research An ultrahigh-sulphur keratin gene of the human hair cuticle is located at 11q13 and cross-hybridizes with sequences at 11p15
research IKZF1 and Ikaros Overexpression Results in Alopecia Areata‐Like Phenotype in Mice
Overexpression of IKZF1 and Ikaros causes hair loss in mice similar to alopecia areata.
research Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research JID VisualDx Quiz: February 2013
research A Simple In Vivo System for Studying Epithelialization, Hair Follicle Formation, and Invasion Using Primary Epidermal Cells from Wild-Type and Transgenic Ornithine Decarboxylase-Overexpressing Mouse Skin
Overexpressing ornithine decarboxylase and v-Ha-ras in keratinocytes leads to invasiveness and malignancy.
research Keloid pathogenesis and fibroproliferative properties are dependent on stem cells regulated by the HEDGEHOG-GLI1 pathway
Blocking the HEDGEHOG-GLI1 pathway can reduce keloid growth and may be a potential treatment.
research EGFR marks a subpopulation of dermal mesenchymal cells highly expressing IGF1 which enhances hair follicle regeneration.
A certain type of skin cell, marked by EGFR, produces a lot of IGF1 and helps hair follicles grow back faster.
research Induction of basal cell carcinomas and trichoepitheliomas in mice overexpressing GLI-1
Overexpressing GLI-1 in mice skin can cause tumors like human basal cell carcinomas.
research S3886 Concurrent Management of Crohn's Ileitis and Alopecia Universalis With Upadacitinib
Upadacitinib improved both Crohn's ileitis and alopecia universalis in a patient.
research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research Investigation of Insulin-Like Growth Factor 1 Receptor Expression in Cases of Sacrococcygeal Pilonidal Sinus
Decreased IGF-1R expression may contribute to sacrococcygeal pilonidal sinus development.
research Immune privilege and alopecia areata
Restoring immune privilege in hair follicles could help treat certain types of hair loss.