research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
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810-840 / 1000+ results research Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
research Clinical Snippets
Skin has a larger surface area than thought, certain skin cells improve skin flap survival, better trials for skin conditions in children are needed, Stevens-Johnson syndrome rates vary by age and race, and better skin barrier function may reduce inflammation in the elderly.
research Single cell deciphering of pruritic keloids: the interaction between fibroblasts and Schwann cells through the Midkine signaling
Targeting Midkine can help reduce pain and itching in keloids.
research Bidirectional binding property of high glycine–tyrosine keratin-associated protein contributes to the mechanical strength and shape of hair
High glycine–tyrosine keratin-associated proteins help make hair strong and maintain its shape.
research PIEZO1-mediated calcium signaling reinforces mechanical properties of hair follicle stem cells to promote quiescence
PIEZO1 helps keep hair follicle stem cells inactive, affecting hair growth.
research Case of non-Herlitz junctional epidermolysis bullosa withCOL17A1mutation
Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
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 피부장벽, 이온, 사이토카인
Calcium is crucial for skin development and healing.
research The role of cathepsin E in terminal differentiation of keratinocytes
Cathepsin E is crucial for normal skin cell differentiation and development.
research 329 Mechanisms of Cutaneous Adverse Events during Targeted Cancer Therapy
Targeted cancer therapies can cause skin side effects, but activating SOS in the skin may help reduce them.
research Fibroblast state switching orchestrates dermal maturation and wound healing
Fibroblast behavior is key for skin structure and healing.
research Data_Sheet_1_Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice.docx
Disrupting the Hars2 gene in mice causes hearing loss due to mitochondrial problems and hair cell damage.
research Alopecia in Epidermolysis Bullosa
The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
research Three cases of androgen‐dependent disease associated with myotonic dystrophy
Women with myotonic dystrophy might get diseases related to male hormones because their body tissues are extra sensitive to these hormones.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Epidermal Dysplasia and Abnormal Hair Follicles in Transgenic Mice Overexpressing Homeobox Gene MSX-2
Overexpressing the MSX-2 gene in mice causes skin and hair growth issues.
research Deficiency of kinase suppressor of Ras1 prevents oncogenic ras signaling in mice.
Lack of KSR1 stops certain skin tumors in mice.
research Development and Homeostasis of the Skin Epidermis
The skin protects the body and is constantly renewed by stem cells; disruptions can lead to cancer.
research SPRY1 Deficiency in Keratinocytes Induces Follicular Melanocyte Stem Cell Migration to the Epidermis through p53/Stem Cell Factor/C-KIT Signaling
SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.
research Morphological analyses in fragility of pili torti with Björnstad syndrome
Pili torti hair is fragile due to loose keratin filaments and weak disulfide bonds.
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research Mesenchymal Stem Cells from Adipose Tissue in Clinical Applications for Dermatological Indications and Skin Aging
Fat-derived stem cells show promise for skin repair and reducing aging signs but need more research for consistent results.
research Spatiotemporal dynamics of sensory neuron and Merkel-cell remodeling are decoupled during epidermal homeostasis
Merkel cells stabilize nerve endings in the skin, and they change independently of each other.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
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 Influence of Atopic Dermatitis on the Dermoscopic Phenotype of Positive Patch Test Reactions: A Prospective Comparative Study
Atopic dermatitis affects the appearance of skin reactions, making certain features more common and improving diagnostic accuracy with dermoscopy.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Insights on the mechanical behavior of keratin fibrils
Keratin's mechanical properties are influenced by hydrogen bonds and secondary structure, and can be improved with the SPD-2 peptide.