research Leflunomide for the treatment of trichodysplasia spinulosa in a liver transplant recipient
Leflunomide successfully treated a rare skin condition in a liver transplant patient.
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research Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>ALIPH mutation
Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
research Premature aging and cancer development in transgenic mice lacking functional CYLD
Lack of functional CYLD in mice leads to early aging and cancer.
research ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
research Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa
Antiviral drugs, especially daclatasvir, may be a new treatment for a rare skin disease, improving survival and reducing symptoms in mice.
research Isotretinoin-unresponsive acne as a sign of a congenital disorder: a case of 21-hydroxylase deficiency
Acne not improved by usual treatments may indicate a genetic disorder.
research 237 Unveiling Skin Cancers Pathophysiology via the Modeling of Xeroderma Pigmentosum Disease Modeling Using CRISPR-Cas9 Technology
Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
research HYPOPIGMENTED MYCOSIS FUNGOIDES IN A CHILD SUCCESSFULLY TREATED WITH UVA1-LIGHT
UVA1-light therapy successfully treated a child's skin condition, mycosis fungoides.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Dab2 (Disabled-2), an adaptor protein, regulates self-renewal of hair follicle stem cells
Dab2 protein is crucial for hair follicle stem cell renewal and preventing early aging.
research Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
LIPH mutations cause woolly hair in some Chinese people.
research Long-Term Survival of Type XVII Collagen Revertant Cells in an Animal Model of Revertant Cell Therapy
Revertant cell therapy shows promise for treating type XVII collagen deficiency, but better cell selection methods are needed.
research BAC-mediated gene-dosage analysis reveals a role for Zipro1 (Ru49/Zfp38) in progenitor cell proliferation in cerebellum and skin
research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
research Behavioural characterization of Vitamin D receptor knockout mice
Vitamin D receptor knockout mice have significant motor impairments but no cognitive deficits.
research The disruption of Sox21-mediated hair shaft cuticle differentiation causes cyclic alopecia in mice
Disrupting the Sox21 gene in mice causes hair loss and regrowth cycles.
research A Novel In Vivo Active Pemphigus Model Targeting Desmoglein1 and Desmoglein3: A Tool Representing All Pemphigus Variants
New mouse models of Pemphigus show severe symptoms and need better treatments.
research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
research Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias
research Balding: A New Mutation on Mouse Chromosome 18 Causing Hair Loss and Immunological Defects
A mutation in mice causes hair loss and immune problems.
research Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research Giant Axonal Degeneration: Scanning Electron Microscopic and Biochemical Study of Scalp Hair
The patient's hair had unique damage and a lower sulfur-to-nitrogen ratio compared to relatives, but not compared to healthy controls.
research A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.