research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
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330-360 / 1000+ resultsresearch Acrodermatitis enteropathica: Case report analyses of zinc metabolism electron microscopic examination and immune function
Zinc supplements effectively treat acrodermatitis enteropathica.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research 1493 Dynamic changes in fibroblast subpopulations drives development of radiation-induced skin fibrosis through the fra/c-jun pathway
Radiation treatment causes skin fibrosis by increasing certain fibroblast subpopulations, but using a c-Jun inhibitor or fat grafting can reduce this effect.
research Atrichia congenita with papular lesions: A rare cause of pediatric alopecia
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
research Queratose folicular espinulosa decalvante: relato de caso
A rare genetic disease caused severe, worsening hair loss from early childhood with poor treatment results.
research Frontal fibrosing alopecia: A review of disease pathogenesis
The cause of Frontal fibrosing alopecia, a type of hair loss, is complex, likely involving immune responses and genetics, but is not fully understood.
research Forsythiaside A protects against focal cerebral ischemic injury by mediating the activation of the Nrf2 and endoplasmic reticulum stress pathways
Forsythiaside A helps reduce brain damage from lack of blood flow by activating certain protective pathways.
research 057 Single cell RNA and TCR sequencing reveals hyperexpansion of T cell clones and novel regulatory mechanisms of CD8+ T cells in murine alopcecia areata skin and draining lymph nodes
CD8+ T cells expand significantly in alopecia areata, suggesting new treatment targets.
research USE OF TOFACITINIB IN DIFFICULT TO TREAT CLINICALLY AMYOPATHIC DERMATOMYOSITIS
Tofacitinib may effectively treat skin symptoms in difficult cases of dermatomyositis.
research AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research Intraretinal variation in disease severity in the Oat mouse model of gyrate atrophy
The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
research A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research A Rare Case of Keratosis Follicularis Spinulosa Decalvans Affecting a Female Child
A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
research Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1
Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
research APECED: JAK Inhibition in an Adult Case with Long-Term Follow-up
JAK inhibitors may help improve symptoms in adults with APECED.
research Role of the Autoimmune Regulator (AIRE) gene in alopecia areata: Strong association of a potentially functional AIRE polymorphism with alopecia universalis
A specific gene change is linked to severe hair loss.
research Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.