research Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
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420-450 / 1000+ resultsresearch Survival of patchwork melanoblasts is dependent upon their number in the hair follicle at the end of embryogenesis
More melanoblasts in hair follicles mean better survival and proper hair pigmentation.
research The secret identities of TMPRSS2: Fertility factor, virus trafficker, inflammation moderator, prostate protector and tumor suppressor
TMPRSS2 helps viruses enter cells and protects the prostate from inflammation-related cancer.
research Limb amputations; etiopathogenesis, diagnosis and the multidisciplinary therapeutic approach
Reducing accidents and treating vascular diseases can lower the need for life-impacting amputations.
research Challenges, Progress, and Prospects of Developing Therapies to Treat Autoimmune Diseases
More precise, personalized therapies are needed for autoimmune diseases.
research Therapeutic Use of Botulinum Neurotoxins in Dermatology: Systematic Review
Botulinum toxins effectively treat excessive sweating and may help with other skin conditions, but more research is needed.
research Fertility evaluation of infertile women: a committee opinion
The conclusion is that women under 35 should start fertility checks after 12 months of trying to conceive, women over 35 after 6 months, and women over 40 should start immediately. The checks should include ovulation status, reproductive tract structure, and male partner's semen evaluation.
research Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis
FGF13 gene changes cause excessive hair growth in a rare condition.
research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
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 Epidermal PPARγ Is a Key Homeostatic Regulator of Cutaneous Inflammation and Barrier Function in Mouse Skin
PPARγ is essential for maintaining healthy skin, controlling inflammation, and ensuring proper skin barrier function.
research Immunological and Metabolic Causes of Infertility in Polycystic Ovary Syndrome
PCOS causes infertility mainly due to hormonal imbalances, insulin resistance, and chronic inflammation.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research Testosterone, sex hormone-binding globulin and dehydroepiandrosterone levels and cervical length of Egyptian women with a history of recurrent miscarriages, polycystic ovary syndrome and without the conditions at three stages of pregnancy
High DHEA and short cervical length in women with PCOS and recurrent miscarriages may harm pregnancy outcomes.
research A State-of-the-Art Overview on (Epi)Genomics and Personalized Skin Rejuvenating Strategies
Personalized skin rejuvenation using genomics shows promise but needs more research.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research Role of Stearoyl-CoA Desaturase-1 in Skin Integrity and Whole Body Energy Balance
SCD1 is crucial for skin health and overall energy balance.
research Androgen Regulation of the Human Hair Follicle: The Type I Hair Keratin hHa7 Is a Direct Target Gene in Trichocytes
The hHa7 gene is regulated by androgens in certain body hair, not scalp hair.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
research Functional analysis of vitamin D receptor (VDR) using adenovirus vector
The study found that certain mutations in the vitamin D receptor can cause rickets and potentially affect hair growth.
research eLife Assessment: The Drosophila hematopoietic niche assembles through collective cell migration controlled by neighbor tissues and Slit-Robo signaling
Proper niche formation in Drosophila requires Slit-Robo signaling for cell migration.
research Acrodermatitis Enteropathica in an adult: a case report
Zinc supplements and diet changes can effectively treat zinc deficiency and prevent complications.
research Pathology of Mouse Models of Accelerated Aging
Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.
research A complete guide to human microbiomes: Body niches, transmission, development, dysbiosis, and restoration
Modern lifestyles harm beneficial microbes, affecting health.
research Organoid technology for tissue engineering
Organoid technology helps create mini-organs for studying diseases and testing drugs.
research Drug repurposing: A novel strategy to target cancer stem cells and therapeutic resistance
Repurposing existing drugs and using micronutrients may effectively target cancer stem cells and improve cancer treatment.
research Cellular senescence in skin‐related research: Targeted signaling pathways and naturally occurring therapeutic agents
Targeting cellular senescence may improve skin aging and disorders.
research Keratin intermediate filaments in the colon: guardians of epithelial homeostasis
Keratin proteins are essential for keeping the cells in the human colon healthy and stable.