research Update on the Genetics of Androgenetic Alopecia, Female Pattern Hair Loss, and Alopecia Areata: Implications for Molecular Diagnostic Testing
Genetic factors affect hair loss, and molecular testing may help predict, diagnose, and treat it.
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30 / 1000+ results research Exploiting molecular genetic diagnoses of polycystic ovary syndrome to achieve better patient outcome
Improved genetic diagnosis of PCOS can lead to better patient outcomes.
research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
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 Equine Dermatophytosis caused by Nannizzia gypsea - Molecular Diagnosis by qPCR
qPCR is effective for quickly diagnosing fungal infections in horses.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Identification of the causative dermatophyte of tinea capitis in children attending Mbarara Regional Referral Hospital in Uganda by PCR-ELISA and comparison with conventional mycological diagnostic methods
PCR-ELISA is better for identifying the fungus causing scalp infections in Ugandan children than traditional methods.
research Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Epidemiologic and Molecular Characterization of Zoonotic Dermatophytes from Pet Dogs and Cats in Egypt
Pets in Egypt can pass skin fungus, especially Microsporum canis, to humans, with outdoor and young pets being more at risk.
research Diagnosis of breast cancer by X-ray diffraction of hair
X-ray diffraction of hair might help detect breast cancer non-invasively.
research Alopecia Areata: Pathogenesis, Diagnosis, and Therapies
Alopecia areata causes unpredictable hair loss, and more research is needed to fully understand and treat it effectively.
research Computational derivation of a molecular framework for hair follicle biology from disease genes
The research provides a gene-based framework for hair biology, highlighting the Hippo pathway's importance and suggesting links between hair disorders, cancer pathways, and the immune system.
research Revolutionizing psoriasis care: Microneedle innovations in treatment and diagnosis
Microneedles offer a promising, less invasive way to treat and monitor psoriasis.
research Development of gene therapy for inner ear disease: Using bilateral vestibular hypofunction as a vehicle for translational research
Gene therapy, especially using atoh1, shows promise for creating functional sensory hair cells in the inner ear, but dosing and side effects need to be managed for clinical application.
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.
research Disorders of Sex Development
DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research British A ssociation of D ermatologists' guidelines for the management of tinea capitis 2014
Accurate diagnosis and effective oral treatment are key to managing tinea capitis and preventing its spread.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Plucked Human Hair Shafts and Biomolecular Medical Research
Human hair follicles may provide a noninvasive way to diagnose diseases and have potential in regenerative medicine.
research Molecular Diagnostics and Control of Zoonotic Dermatophytosis: First Detection of Trichophyton indotineae in a Dog in Africa
Accurate diagnosis and effective treatment are crucial to manage and prevent the spread of skin fungal infections in animals.
research AN UPDATE OF HAIR SHAFT DISORDERS
Advances in genetics may lead to targeted treatments for hair disorders.
research Hair Loss Disorders in Domestic Animals
The book is recommended for its new scientific information and balanced treatment options for hair loss in domestic animals.
research Sox9 expression in canine epithelial skin tumors
Sox9 is present in most canine skin tumors and may help understand stem cells' role in these cancers.
research Advances in the genetic understanding of hypohidrotic ectodermal dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
research Measuring changes in chemistry, composition, and molecular structure within hair fibers by infrared and Raman spectroscopic imaging
Infrared and Raman imaging can non-destructively analyze hair structure and help diagnose hair conditions.