research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
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30 / 1000+ results 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 Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
research The Naked (N) Mutation, Chromosome 15
The naked mutation in mice causes hair loss and helps identify keratin genes.
research A keratin scaffold regulates epidermal barrier formation, mitochondrial lipid composition, and activity
Keratin is crucial for skin barrier formation and affects mitochondrial function.
research Hague (Hag): A New Mouse Hair Mutation With an Unstable Semidominant Allele
A new mouse hair mutation, called hague, is semidominant and unstable, but the exact cause is unknown.
research Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives
Promising treatments for EBS include anti-inflammatory drugs, antibiotics, creams, mTOR inhibitors, and gene editing, but more trials are needed.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research 603 Pathological modeling of epidermolysis bullosa simplex (EBS) using induced pluripotent stem cells (iPSC)
Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
research 1440 DNA dioxygenases Tet2/3 regulate gene promoter accessibility and chromatin topology in lineage-specific loci to control keratinocyte differentiation and hair growth
Tet2 and Tet3 enzymes are important for controlling hair growth and shape by affecting gene activity and DNA structure in hair follicles.
research Clinical Snippets
Some cells may slow melanoma growth, a protein could affect skin pigmentation, a gene-silencing method might treat hair defects, skin bacteria changes likely result from eczema, and a defensin protein could help treat multiple sclerosis.
research Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma
Chemotherapy improved a girl's painful foot condition linked to pachyonychia congenita.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Delayed Wound Healing in Keratin 6a Knockout Mice
Keratin 6a is important for quick wound healing from hair follicles.
research Key Factors in the Complex and Coordinated Network of Skin Keratinization: Their Significance and Involvement in Common Skin Conditions
Understanding keratinization is crucial for treating skin conditions like ichthyoses and psoriasis.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research The Functional Diversity of Epidermal Keratins Revealed by the Partial Rescue of the Keratin 14 Null Phenotype by Keratin 16
K16 can partially replace K14 but causes hair loss and skin issues.
research A Unique Expression of Keratin 14 in a Subset of Trophoblast Cells
Keratin 14 is uniquely found in a specific group of placental cells.
research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
research The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis
A mutation in the KRT75 gene causes frizzle feathers in chickens.
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 Skin Keratins
Keratins are important for skin cell health and their problems can cause diseases.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
research Characterization of Bsk mice: I. The Bsk mutation does not involve a recombination of cornea-specific keratin 12 and skin-specific hair keratin genes.
The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
research Interleukin-1 Induces Transcription of Keratin K6 in Human Epidermal Keratinocytes
Interleukin-1 increases keratin K6 production in skin cells.