research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
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research Ectopic Expression of the nude Gene Induces Hyperproliferation and Defects in Differentiation: Implications for the Self-Renewal of Cutaneous Epithelia
The nude gene causes skin cell overgrowth and improper development, leading to hair and urinary issues.
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 Onycholemmal horn: A distinctive subungual tumour
Onycholemmal horn is a rare nail tumor in elderly women, treated by surgical removal.
research Connexin mutations in human disease
Connexin mutations can cause various diseases like hearing loss and skin disorders.
research A Simple In Vivo System for Studying Epithelialization, Hair Follicle Formation, and Invasion Using Primary Epidermal Cells from Wild-Type and Transgenic Ornithine Decarboxylase-Overexpressing Mouse Skin
Overexpressing ornithine decarboxylase and v-Ha-ras in keratinocytes leads to invasiveness and malignancy.
research Onychomatricoma in the Light of the Microanatomy of the Normal Nail Unit
Onychomatricoma is a unique nail tumor that mimics the entire nail unit and is not related to other hair-related tumors.
research Review of Keratin Disorders
Mutations in keratin genes cause skin, hair, and nail disorders, with future treatments possible.
research Steatocystoma Multiplex
Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report
A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Unleashing the Furry Beast: Exploring the Fascinating World of Hypertrichosis Lanuginosa
Hypertrichosis lanuginosa causes excessive fine hair growth, often linked to genetics or cancer, with limited treatment options.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research Novel mutation in PTCH1 gene in a patient with basal cell nevus syndrome and uterus bicornis
research Abnormal differentiation of epidermis in transgenic mice constitutively expressing cyclooxygenase-2 in skin
Overexpression of COX-2 in mice skin causes abnormal skin and hair development.
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 Seborrheic Keratoses and Trichostasis Spinulosa
Seborrheic keratoses may partly come from hair follicle cells.
research De novo follicular regeneration of the skin by wingless int 3 and bone morphogenetic protein 2 genes introduced into dermal fibroblasts and fibroblast growth factor‐2 protein
Genetically modified cells can regenerate skin and hair in rats.
research Onychoblastoma – Hamartoma of the Nail Unit: A New Entity?
A new benign nail tumor called onychoblastoma was identified.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research Gene-knockout mice with abnormal epidermal and hair follicular development
Knocking out certain genes in mice helps understand skin and hair growth problems.
research Seborrhoeic Dermatitis in Pigmy Goats
Pygmy goats with seborrhoeic dermatitis showed skin symptoms and temporary improvement with corticosteroids, but the cause and inheritance of the disease remain unknown.
research FOXN 1 Duplication and Congenital Hypertrichosis
FOXN1 duplication can cause excessive hair growth.
research Loose anagen syndrome in one identical twin girl.
A 2-year-old girl had a hair disorder not shared by her identical twin.
research Association of a polymorphism in the ornithine decarboxylase gene with male androgenetic alopecia
research Nevus Sebaceous
Nevus sebaceous is identified by unique skin changes, including thickened skin, fewer hair follicles, and many sebaceous glands.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.