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.
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research The role of AUTS2 in neurodevelopment and human evolution
The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
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 Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research Physical inactivity is a disease synonymous for a non-permissive brain disorder
Physical inactivity is a primary cause of many human illnesses.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research Selenoproteins Are Essential for Proper Keratinocyte Function and Skin Development
Selenoproteins are crucial for healthy skin and hair.
research BIPHENOTYPIC LEUKAEMIA
Acute leukemias with the Philadelphia chromosome may be biphenotypic, and identifying this is important for proper treatment.
research Female pattern hair loss
FPHL is a common, age-related, genetic hair loss with unclear causes and limited treatment options.
research Foxn1 in Skin Development, Homeostasis and Wound Healing
Foxn1 is crucial for skin development and healing, and altering its expression may aid regenerative medicine.
research Metformin and Malignant Tumors: Not Over the Hill
Metformin, a diabetes drug, may help prevent and treat various cancers, but more research is needed.
research Hairless Up‐Regulates Tgf‐β2 Expression via Down‐Regulation of miR‐31 in the Skin of “Hairpoor” (HrHp) Mice
HR protein causes abnormal hair cycles by increasing Tgf-β2 and reducing miR-31.
research Association between EGF and EGFR Gene Polymorphisms and Susceptibility to Alopecia Areata in the Korean Population
Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.
research FLCN regulates transferrin receptor 1 transport and iron homeostasis
FLCN helps control iron levels in cells.
research [Neurosteroidogenesis and exploratory responses in rodents].
Certain substances can decrease or increase exploratory behavior in rodents.
research DEVELOPMENT OF A DESMOCOLLIN-3 ACTIVE MOUSE MODEL RECAPITULATING HUMAN ATYPICAL PEMPHIGUS
Anti-Desmocollin 3 antibodies can cause atypical pemphigus symptoms.
research Skin as a Window to Endocrine Dysfunction: Dermatological and Metabolic Interactions in Polycystic Ovary Syndrome
Skin issues in PCOS signal hormone problems, and combined treatments improve outcomes.
research 308 Epidermal keratinocytes regulate bacterial immune responses and host defense through EGFR
EGFR inhibitors cause skin issues and hair loss by weakening skin defenses, suggesting antibiotics and targeted treatments can help.
research The Investigation of LPA 4 Functions in Zebrafish
LPA 4 helps control blood and lymph vessel development in zebrafish.
research An Indian Evidence-Based Study of Prevalence, Phenotypic Features, Lifestyle Modifications of Polycystic Ovarian Syndrome Patients
The study found that PCOS affects about 6.5-6.8% of women in both urban and rural areas of Telangana, India, and highlighted the importance of lifestyle changes for management.
research Inducible deletion of Dicer or Drosha reveals multiple functions for miRNAs in postnatal epidermis and hair follicles
miRNAs are crucial for hair growth and skin health.
research Beyond Wavy Hairs
EGFR signaling is crucial for skin and hair health, and targeting it could help treat skin diseases and cancer.
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 Myotonic Dystrophy—A Progeroid Disease?
Myotonic dystrophy may be classified as a segmental progeroid disorder.
research The Hidden Link between Polycystic Ovary Syndrome and Kidney Stones: Finding from the Tehran Lipid and Glucose Study (TLGS)
Women with PCOS are more likely to develop kidney stones, especially those with certain PCOS types.
research Advancements in Drug Repurposing: Examples in Psychiatric Medications
Old psychiatric drugs are increasingly being used for new purposes, and technologies like SmartCube® help create new drugs.
research Lamins in development, tissue maintenance and stress
Lamins are vital for cell survival, organ development, and preventing premature aging.