research Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation
Desmocollin 1 is essential for strong skin and proper skin function.
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750-780 / 1000+ resultsresearch A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research Pitx2, a β-catenin-regulated transcription factor, regulates the differentiation of outer root sheath cells cultured in vitro
Pitx2 helps outer root sheath cells differentiate but can't start hair growth on its own.
research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
research Multiplex matrix network analysis of protein complexes in the human TCR signalosome
Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
research Moniletrix. Observación de esta infrecuente displasia pilosa en dos hermanos. Reporte clínico y dermatoscópico
Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
research DKK1 Mediated Inhibition of Wnt Signaling in Postnatal Mice Leads to Loss of TEC Progenitors and Thymic Degeneration
Blocking Wnt signaling in young mice causes thymus shrinkage and cell loss, but recovery is possible when the block is removed.
research The use of polyethylenimine–DNA to topically deliver hTERT to promote hair growth
Using polyethylenimine-DNA to deliver the hTERT gene can stimulate hair growth and may be useful in treating hair loss, but there could be potential cancer risks.
research Alopecia X in a Pomeranian dog: Successful clinical management through neutering
Neutering successfully treated hair loss in a Pomeranian dog.
research ATP6AP1‐CDG: Follow‐up and female phenotype
ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research The structure of hair and follicles of mice carrying the naked (N) gene
Mice with the naked gene have missing or abnormal hair cells.
research Faculty Opinions recommendation of Loss of desmocollin 3 in mice leads to epidermal blistering.
Loss of Desmocollin 3 in mice causes skin blisters and hair loss.
research FOXN1 Is Critical for Onycholemmal Terminal Differentiation in Nude (Foxn1nu) Mice
The Foxn1 gene is essential for normal nail and hair development.
research Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
Certain genetic variants in keratins increase the risk of tooth decay.
research Expression profile analysis of dermal papilla cells mRNA in response to WNT10B treatment
WNT10B affects hair growth by altering gene activity in hair cells.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research The Suppression Effects of Fat Mass and Obesity Associated Gene on the Hair Follicle-Derived Neural Crest Stem Cells Differentiating into Melanocyte by N6-Methyladenosine Modifying Microphthalmia-Associated Transcription Factor
The FTO gene hinders stem cells in hair follicles from becoming pigment cells.
research Electron microscopic observation of skin and hair on a case of Netherton syndrome
Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
research Increased expression of keratin 16 causes anomalies in cytoarchitecture and keratinization in transgenic mouse skin.
Too much keratin 16 in mice skin causes abnormal skin thickening and structure.
research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
research Efficacy of an agonist ofα-MSH, the palmitoyl tetrapeptide-20, in hair pigmentation
Palmitoyl tetrapeptide-20 may help reduce hair greying and increase melanin production.
research Plerixafor Biases CXCR4 Signaling Through β-Arrestin to Promote Melanogenesis via β-Catenin–MITF Activation
Plerixafor may help treat pigmentation disorders by promoting skin repigmentation.
research Reply
The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
research Pili Annulati
The patient's hair has unique structural differences with alternating bright and dark bands.
research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
research Detection of five substitution TPO mutations in Polycystic Ovary Syndrome (PCOS) and thyroid hormones disturbance patients
Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.
research Absence of vitamin D receptor (VDR)‐mediated PPARγ suppression causes alopecia in VDR‐null mice
Lack of vitamin D receptor causes hair loss in mice by allowing certain genes to overactivate.
research Large-Scale Plasma Proteomics and Genetic Integration Uncover Novel Biological Pathways in Male Pattern Baldness
New biological pathways and potential treatment targets for male pattern baldness were identified.