research Targeting of Smoothened for therapeutic gain
Targeting the Smoothened receptor shows promise for treating certain cancers.
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210-240 / 1000+ resultsresearch Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Targeting integrin pathways: mechanisms and advances in therapy
New therapies are being developed that target integrin pathways to treat various diseases.
research Functional Food Nutrients, Redox Resilience Signaling and Neurosteroids for Brain Health
Functional foods and nutrients like flavonoids, vitamin D, omega-3s, and probiotics can boost brain health and reduce stress.
research Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production
Lack of a key enzyme causes severe skin issues and death in mice.
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 Male infertility and genitourinary birth defects: there is more than meets the eye
Male infertility and genitourinary birth defects are often linked to genetic issues.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research Estimating the risk of irreversible post-SSRI sexual dysfunction (PSSD) due to serotonergic antidepressants
Serotonergic antidepressants can significantly increase the risk of erectile dysfunction and have a small risk of causing irreversible sexual dysfunction.
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 Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Shedding light on cashmere goat hair follicle biology: from morphology analyses to transcriptomic landascape
The research found genes that change during cashmere goat hair growth and could help determine the best time to harvest cashmere.
research Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research The Hairdex Quality of Life Instrument—A Translation and Psychometric Validation in Patients with Alopecia Areata
The Swedish Hairdex-S is a reliable tool for assessing quality of life in Alopecia Areata patients.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Fibroblast bioelectric signaling drives hair growth
Fibroblast bioelectric signaling can promote hair growth and may help treat hair loss.
research Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children
Hair microscopy is a simple and cost-effective method to help diagnose systemic diseases in children.
research Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
research Skin Sceneries of Thyroid Disorders and Impact of Thyroid on Different Skin Diseases: A Scoping Review Focused on Pediatric Patients
Thyroid disorders can cause skin issues in children, so early detection and screening are important.
research Genomic prediction and genome-wide association studies of morphological traits and distraction index in Korean Sapsaree dogs
Genomic prediction can improve breeding strategies for Korean Sapsaree dogs.
research Case report: Dermatosis neglecta mimicking pemphigus foliaceus in association with obsessive–compulsive disorder
Proper cleansing can resolve dermatosis neglecta, which may indicate underlying psychiatric issues.
research High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research A Rare Case of Cutis Verticis Gyrata with Underlying Cerebriform Intradermal Nevus
A patient with a scalp condition and benign skin tumor experienced hair loss and did not improve with treatment, choosing not to have surgery despite a small cancer risk.
research A guide to diagnosis and management of hypertrichosis
Hypertrichosis involves excessive hair growth and needs careful diagnosis and treatment, considering its psychological effects.
research Dermatologic care of patients with differences of sex development
Dermatologists are crucial in providing personalized care for patients with sex development differences.
research The genetics of autism and steroid-related traits in prenatal and postnatal life
Autism's genetics are linked with early age of puberty and less hair loss, but not with hormone levels or polycystic ovary syndrome.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Using the Mechanisms of Action Involved in the Pathogenesis of Androgenetic Alopecia to Treat Hair Loss
Combining different drugs can improve hair loss treatment.