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.
Search
for
Sort by
Research
240-270 / 1000+ results
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research Wnt1/βcatenin injury response activates the epicardium and cardiac fibroblasts to promote cardiac repair
Wnt1/βcatenin signaling is crucial for heart repair after injury.
research 647 Alternative splicing factor Esrp1 controls homeostasis of skins by regulating barrier formation and function
Esrp1 is important for skin health by helping form and maintain the skin barrier.
research GBP1 as a machine learning-prioritized biomarker and therapeutic target for epstein-barr virus-induced clear cell renal cell carcinoma: multi-omics causal validation
GBP1 is a key target for treating Epstein-Barr virus-related kidney cancer, and finasteride may help.
research Upregulation of genes orchestrating keratinocyte differentiation, including the novel marker gene ID2, by contact sensitizers in human bulge‐derived keratinocytes
The ID2 gene can help distinguish between sensitizers and irritants in skin cells.
research Immunolocalization of a Histidine-Rich Epidermal Differentiation Protein in the Chicken Supports the Hypothesis of an Evolutionary Developmental Link between the Embryonic Subperiderm and Feather Barbs and Barbules
A specific protein in chicken embryos links early skin layers to feather development.
research Psoriatic onychopachydermoperiostitis: improvement with etanercept
Etanercept improved symptoms of a specific type of psoriatic arthritis in a patient who didn't respond to other treatments.
research Expression of Foxi3 is regulated by ectodysplasin in skin appendage placodes
Foxi3 expression in developing teeth and hair is controlled by the ectodysplasin pathway.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research 547 CDK9 Kinase Activation in Association with AFF1-SEC Initiate Epidermal Progenitor differentiation
NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
research Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses
Netherton syndrome has two subtypes with shared immune traits but different allergic and immune responses, suggesting targeted treatments.
research Corneodesmosin: Structure, Function and Involvement in Pathophysiology
Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
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 Dedicator of Cytokinesis 5 Regulates Keratinocyte Function and Promotes Diabetic Wound Healing
Dock5 is important for skin healing and could help treat diabetic wounds.
research Coactivator MED1 Ablation in Keratinocytes Results in Hair-Cycling Defects and Epidermal Alterations
Deleting MED1 in skin cells causes hair loss and skin changes.
research Message of nexin 1, a serine protease inhibitor, is accumulated in the follicular papilla during anagen of the hair cycle
Nexin 1 may help control hair growth.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research cDermo-1 misexpression induces dense dermis, feathers, and scales
cDermo-1 causes dense skin, feathers, and scales in chickens.
research NEDD4 Transcript Variant 3 and IGF-1 as Molecular Markers in the Development and Prognosis of Keloids
High levels of NEDD4-TV3 and IGF-1 may predict and contribute to keloid formation.
research Differences in Human Skin Between the Epidermal Growth Factor Receptor Distribution Detected by EGF Binding and Monoclonal Antibody Recognition
research 178 Neutrophil elastase is critical in linear IgA bullous dermatosis in mice
CD8+ T cells attack hair follicle stem cells, causing scarring and hair loss.
research Engineered Nanovesicles from Fibroblasts Modulate Dermal Papillae Cells In Vitro and Promote Human Hair Follicle Growth Ex Vivo
Engineered nanovesicles from fibroblasts may help treat hair loss by promoting hair growth.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research INNOVATIVE THERAPIES IN REGENERATIVE MEDICINE AND TRANSPLANTATION
DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
research 0866 Role of transcriptional elongation in dermal fat development
Nelfb is essential for dermal fat development and survival.