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research Disruption of anthrax toxin receptor 1 in pigs leads to a rare disease phenotype and protection from senecavirus A infection
Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
research 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia
CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Progerin affects cell shape but not hair or skin in mice.
research Impaired Notch‐MKP ‐1 signalling in hidradenitis suppurativa: an approach to pathogenesis by evidence from translational biology
Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research A 5'-upstream region of a bovine keratin 6 gene confers tissue-specific expression and hyperproliferation-related induction in transgenic mice.
A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
research A novel regio-specific cyclosporin hydroxylase gene revealed through the genome mining of Pseudonocardia autotrophica
Scientists found a new gene in a bacterium that can modify an immunosuppressant drug, potentially helping to treat hair loss.
research The oestrogen receptor 2 (ESR2) gene in female-pattern hair loss: replication of association with rs10137185 in German patients
ESR2 gene linked to female-pattern hair loss.
research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Analyzing the role of ACE2, AR, MX1 and TMPRSS2 genetic markers for COVID-19 severity
MX1 and AR genes are linked to milder COVID-19, while TMPRSS2 increases severe risk, especially in women.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Genes for intermediate filament proteins and the draft sequence of the human genome
The study found 65 intermediate filament genes, including new keratins, and suggested updating keratin naming.
research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Alopecia Universalis Associated with a Mutation in the Human hairless Gene
A mutation in the human hairless gene causes alopecia universalis.
research Detection of NUDT15 R139C variants and azathioprine utilization in patients with dermatologic conditions
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 Keratin 79 is a PPARA target that is highly expressed by liver damage
Keratin 79 is linked to liver damage and may help diagnose liver diseases.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Androgen receptor CAG repeat length is associated with ovarian reserve but not with ovarian response
The length of CAG repeats in the androgen receptor gene is linked to ovarian reserve but does not affect how the ovaries respond to stimulation.
research 022 Exploring the potential of the novel IFNγ aptamer TAGX-0003 as a treatment for alopeciaareata in pre-clinical models
The new aptamer TAGX-0003 shows promise as an effective treatment for hair loss disorder alopecia areata.
research Hepatocyte growth factor (HGF) activator expressed in hair follicles is involved in in vitro HGF-dependent hair follicle elongation
HGF activator helps convert HGF to its active form, promoting hair growth.
research A Short Peptide GPIGS Promotes Proliferation of Hair Bulb Keratinocytes and Accelerates Hair Regrowth in Mice
The peptide GPIGS helps hair cells grow and speeds up hair regrowth in mice.
research A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
A gene mutation causes woolly hair in a Syrian patient.
research Genetic alteration of cyclic adenosine 3',5'-monophosphate-dependent protein kinase subunit expression affects calcium currents and beta-endorphin release in AtT-20 clonal pituitary cells.
Changing protein kinase levels in pituitary cells affects calcium flow and beta-endorphin release.
research Transcriptome analysis reveals the genetic basis underlying the development of skin appendages and immunity in hedgehog (Atelerix albiventris)
The study found that certain genes are important for hedgehog skin appendage development and immunity, with spines possibly evolving for protection and infection resistance.
research Molecular mechanism of ligand recognition and activation of lysophosphatidic acid receptor LPAR6
LPAR6 has a unique way of binding and activating, which helps in designing treatments for hair loss and cancer.