research The role of vitamin D receptor mutations in the development of alopecia
Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
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120-150 / 1000+ resultsresearch Adult-onset Satoyoshi syndrome in a young male
A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
research Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
research Ichthyosis hystrix
A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Prevalence and Predictors of Impaired Glucose Tolerance and Diabetes Mellitus Type 2 in Patients with Polycystic Ovary Syndrome
Many women with polycystic ovary syndrome have normal blood sugar, but some may have higher blood sugar levels or diabetes, especially if they are older, overweight, and have certain hormone levels.
research Schimmelpenning Syndrome: A Neuro-Oculo-Cutaneous Disorder
Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Regulation of adult stem cell quiescence and its functions in the maintenance of tissue integrity
Quiescent adult stem cells are crucial for tissue repair and maintenance.
research Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease
The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
research Angora Mouse Mutation: Altered Hair Cycle, Follicular Dystrophy, Phenotypic Maintenance of Skin Grafts, and Changes in Keratin Expression
The angora mouse mutation causes long hair and hair defects due to a gene deletion.
research Disturbed Epidermal Structure in Mice with Temporally Controlled Fatp4 Deficiency
Fatp4 is crucial for healthy skin development and function.
research The 1,25-dihydroxyvitamin D3-independent actions of the vitamin D receptor in skin
The vitamin D receptor helps regulate skin and hair health independently of its usual vitamin D ligand.
research CtBP1 Overexpression in Keratinocytes Perturbs Skin Homeostasis
Overexpressing CtBP1 in skin cells causes skin and hair problems.
research Impaired metabolic effects of metformin in men with early-onset androgenic alopecia
Metformin is less effective in men with early-onset hair loss.
research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research Forensic approach in cases of anabolic-androgenic steroid abuse and cardiovascular mortality: insights from autopsy, histopathology, immunohistochemistry and toxicology
Anabolic-androgenic steroid abuse can cause heart damage and sudden death.
research Rehabilitation therapy for a severe case of coronavirus disease 2019: a case report
Rehabilitation therapy helped a severe COVID-19 patient regain muscle mass and return to normal life.
research Side effects of vitamins, amino acids, nutrition, and complementary and alternative medicine
Some vitamins, amino acids, and alternative medicines can cause serious side effects, including bone, muscle, and skin issues, and healthcare professionals should be aware of these risks.
research Vitamin D: More Than a “Bone-a-Fide” Hormone
Vitamin D is important for bones, hair, blood pressure, and breast development.
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 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 Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation
Msx2 deficiency in mice leads to bone growth and organ development problems.
research Induction of the hair growth phase in postnatal mice by localized transient expression of Sonic hedgehog
Activating the Sonic hedgehog gene in mice can start the hair growth phase.
research Fundamental Concepts and Novel Aspects of Polycystic Ovarian Syndrome: Expert Consensus Resolutions
PCOS affects health and quality of life, with effective treatments available and a need for more research on alternative therapies.
research Furnishing Wound Repair by the Subcutaneous Fascia
The subcutaneous fascia is key to fast wound healing and could improve treatments for chronic wounds and scarring.
research Emerging roles of Sox6 in the renal and cardiovascular system
Sox6 is important in heart and kidney health, affecting diseases like diabetes, heart disease, and high blood pressure.
research Gene-knockout mice with abnormal epidermal and hair follicular development
Knocking out certain genes in mice helps understand skin and hair growth problems.
research Making the head: Caspases in life and death
Caspases are enzymes important for both cell death and various non-lethal cell functions, affecting head development and hair growth, with different caspases playing specific roles.
research Wwox Deficiency Causes Downregulation of Prosurvival ERK Signaling and Abnormal Homeostatic Responses in Mouse Skin
WWOX deficiency in mice causes skin and fat tissue problems due to disrupted cell survival signals.