research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
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research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research CircERCC6 Positively Regulates the Induced Activation of SHF Stem Cells in Cashmere Goats via the miR-412-3p/BNC2 Axis in an m6A-Dependent Manner
Circular RNA ERCC6 helps activate stem cells important for cashmere goat hair growth by interacting with specific molecules in an m6A modification-dependent way.
research Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype
Mutations in the Sgk3 gene cause fuzzy hair in mice.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Role of OsPHR2 on phosphorus homoestasis and root hairs development in rice (Oryza sativaL.)
OsPHR2 gene in rice enhances root growth and phosphorus accumulation.
research Curly bare (cub), a new mouse mutation on chromosome 11 causing skin and hair abnormalities, and a modifier gene (mcub) on chromosome 5
A new mouse mutation causes skin and hair issues, influenced by another gene.
research Mutation of a type II keratin gene (K6a) in pachyonychia congenita
research Gene therapy for alopecia in type II rickets model rats using vitamin D receptor-expressing adenovirus vector
Gene therapy helped rats with a specific type of rickets grow hair without severe inflammation.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
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 Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research The 5alpha-reductase type 1, but not type 2, gene is expressed in anagen hairs plucked from the vertex area of the scalp of hirsute women and normal individuals
The gene SDR5A1 is found in scalp hair of both hirsute and normal individuals, but it does not explain differences in hair growth.
research Dermal EZH2 simultaneously orchestrates dermal differentiation and epidermal proliferation during murine skin development
Dermal EZH2 controls skin cell growth and differentiation in mice.
research 731 Generation of a laser capture microdissection and RNAseq-based human anagen hair follicle transcriptome atlas
Scientists created a detailed map of gene activity in different parts of human hair follicles.
research Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless
The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.
research The heme-responsive PrrH sRNA regulates Pseudomonas aeruginosa pyochelin gene expression
PrrH sRNA controls pyochelin production in *Pseudomonas aeruginosa*.
research Cell Surface B2m-Free Human Leukocyte Antigen (HLA) Monomers and Dimers: Are They Neo-HLA Class and Proto-HLA?
B2m-free HLA variants may be a new class of HLA important in immune responses and diseases.
research Characterization of a Hair (Wool) Keratin Intermediate Filament Gene Domain
research Faculty Opinions recommendation of Modulation of phospholipid signaling by GLABRA2 in root-hair pattern formation.
GLABRA2 gene controls root-hair growth by regulating phospholipid signaling.
research Comprehensive transcriptome profiling between balding and non-balding scalp of Female pattern hair loss in Asian
The research suggests that SFRP2 and PTGDS proteins might be indicators of female pattern hair loss and could contribute to hair loss.
research Careless talk costs lives: fibroblast growth factor receptor signalling and the consequences of pathway malfunction
Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.
research Molecular Genetics of Human Hair Diseases
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 376 Tsc2 disruption in mesenchymal progenitors regulates hair follicles and TGF beta signaling
Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.
research Hair of the Dog: Identification of a Cis-Regulatory Module Predicted to Influence Canine Coat Composition
Researchers found a genetic region that influences the number of coat layers in dogs.