research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
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600-630 / 1000+ resultsresearch Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research Wnt7a can up-regulates cell adhesion related protein fibronectin expression and promotes cell proliferation in corneal epithelial cells
Wnt7a helps corneal cells grow and stick together, aiding in repair.
research The ITGB6 gene: its role in experimental and clinical biology
The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
research Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research Acyl-CoA binding protein and epidermal barrier function
ACBP is essential for healthy skin and fur by maintaining the skin's barrier function.
research Perifollicular Xanthomas Associated with Epidermal Growth Factor Receptor Inhibitor Therapy
EGFR inhibitors can cause yellowish skin eruptions.
research rPanglaoDB: an R package to download and merge labeled single-cell RNA-seq data from the PanglaoDB database
rPanglaoDB helps study rare cell types by merging RNA data, showing fibrocytes aid in healing.
research Feasibility and tolerability of eribulin-based chemotherapy versus other chemotherapy regimens for patients with metastatic triple-negative breast cancer: a single-centre retrospective study
Eribulin-based chemotherapy is more effective and has fewer side effects for advanced triple-negative breast cancer.
research Ethanol-induced GABAA receptor alpha4 subunit plasticity involves phosphorylation and neuroactive steroids
Ethanol changes GABAA receptor α4 subunit levels through phosphorylation and neuroactive steroids.
research 138 Characterization of xenobiotic metabolizing enzymes of a reconstructed human epidermal model from adult hair follicles
The reconstructed skin model from hair follicles functions like human skin in processing chemicals and can be used to test ingredient safety.
research 546 Epidermal growth factor receptor as a key regulator of the immune privilege
EGFR is crucial for preventing hair follicle inflammation and hair loss.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research A phosphoinositide-mediated switch of GET pathway receptor dimerization in Arabidopsis
Phospholipids help plant proteins move by regulating receptor interactions.
research The IRE gene encodes a protein kinase homologue and modulates root hair growth in Arabidopsis
The IRE gene is important for normal root hair growth in Arabidopsis plants.
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research The ZIP7 Gene (Slc39a7) Encodes a Zinc Transporter Involved in Zinc Homeostasis of the Golgi Apparatus
The ZIP7 gene helps control zinc levels in cells by moving zinc from the Golgi apparatus to the cytoplasm.
research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
research 519 Phase I/IIa clinical trial for recessive dystrophic epidermolysis bullosa using genetically corrected autologous keratinocytes
The gene therapy showed significant wound healing and was safe for treating severe RDEB.
research Table 1_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica effectively.
research Mediterranean Basin Erica Species: Traditional Uses, Phytochemistry and Pharmacological Properties
Mediterranean Erica species have compounds that support their traditional use for health benefits like reducing inflammation and fighting infections.
research Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality
The ZIP13 variant is linked to abnormal hair quality.
research Molecular mechanisms of ectodermal dysplasia syndromes
Ectodermal dysplasia syndromes are caused by disruptions in key signaling pathways affecting tooth and hair development.
research Frizzled Receptors in Development and Disease
Frizzled receptors are essential for various body development processes and maintaining certain body functions.
research Existence of trichohyalin-keratohyalin hybrid granules: Co-localization of two major intermediate filament-associated proteins in non-follicular epithelia
Trichohyalin is found in non-hair tissues and works with filaggrin in certain skin areas and conditions.
research Diphenyl ethers as androgen receptor antagonists for the topical suppression of sebum production
Diphenyl ethers can potentially reduce excess oil production when applied on the skin, helping treat conditions like acne.
research Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness
A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.
research Signature selection analysis reveals candidate genes associated with production traits in Iranian sheep breeds
Certain genes in Iranian sheep are linked to wool production and heat adaptation.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.