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.
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30 / 1000+ results research Dermatopathia Pigmentosa Reticularis: A Rare Reticulate Pigmentary Disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Beyond Expectations: The Role of Keratin Intermediate Filament Proteins in Epidermal Integrity
Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
research Keratin Function and Regulation in Tissue Homeostasis and Pathogenesis
Keratin is crucial for keeping skin cells healthy and its changes can lead to diseases and affect cell behavior.
research Epidermolysis Bullosa Simplex: A Paradigm for Disorders of Tissue Fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Formation of the Cornified Envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research Hair Regrowth in a Male Patient with Extensive Androgenetic Alopecia on Estrogen Therapy
Estrogen therapy helped regrow hair in a bald man.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Localized Epidermolysis Bullosa Simplex (Weber-Cockayne Type)
A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
research Epidermolysis Bullosa Simplex 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 Alopecia in Epidermolysis Bullosa
The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
research Whole Exome Sequencing in Alopecia Areata Identifies Rare Variants in KRT82
Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
research Hairless and Wnt Signaling: Allies in Epithelial Stem Cell Differentiation
The HR protein's role as a repressor is essential for controlling hair growth.
research Hutchinson-Gilford Progeria Syndrome: Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research The Role of the SLC39A Family of Zinc Transporters in Zinc Homeostasis in Skin
Certain zinc transporters are essential for healthy skin and managing zinc in the body could help treat skin problems.
research Mechanical Forces in Skin Disorders
Skin problems can be caused or worsened by physical forces and pressure on the skin.
research GDNF Promotes Hair Formation and Cutaneous Wound Healing by Targeting Bulge Stem Cells
GDNF helps grow hair and heal skin wounds by acting on hair stem cells.
research 14-3-3σ Is Required for Club Hair Retention
The 14-3-3σ gene is essential for preventing hair loss.
research First Symposium on Natural Gene Therapy of the Skin
Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
research Ligand-Independent Regulation of the Hairless Promoter by Vitamin D Receptor
Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
research A Pair of Transmembrane Receptors Essential for the Retention and Pigmentation of Hair
Bmpr2 and Acvr2a receptors are crucial for hair retention and color.
research 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.
research Pathological Modeling of Epidermolysis Bullosa Simplex Using Induced Pluripotent Stem Cells
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 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 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 Keratin Disorders: From Gene to Therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Keratins and Skin Disease: Genetic and Molecular Roles
Keratin mutations cause skin diseases and could lead to new treatments.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research The Expanding Significance of Keratin Intermediate Filaments in Normal and Diseased Epithelia
Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.