research Chrousos Syndrome: From Molecular Pathogenesis to Therapeutic Management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
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research Spinal and Bulbar Muscular Atrophy: Pathogenesis and Clinical Management
Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
research Prevalence of CYP21 Mutations and IRS1 Variant Among Women With Polycystic Ovary Syndrome and Adrenal Androgen Excess
Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
research Knock-Down of Arabidopsis PLC5 Reduces Primary Root Growth and Secondary Root Formation While Overexpression Improves Drought Tolerance and Causes Stunted Root Hair Growth
Changing the amount of PLC5 in Arabidopsis affects root growth and drought resistance, with less PLC5 slowing root growth and more PLC5 improving drought tolerance but hindering root hair growth.
research Aromatase Deficiency in a Male Patient: Case Report and Literature Review
A male with aromatase deficiency improved bone health with estradiol treatment.
research Inactivation of Autophagy Leads to Changes in Sebaceous Gland Morphology and Function
Autophagy is crucial for normal sebaceous gland function and sebum composition.
research Pharmacogenetic Analysis of Human Steroid 5α Reductase Type II: Comparison of Finasteride and Dutasteride
Dutasteride is more efficient than finasteride, but individual results vary.
research An Endophytic Microbe From An Unusual Volcanic Swamp Corn Seeks And Inhabits Root Hair Cells To Extract Rock Phosphate
A special microbe helps plants absorb rock phosphate by growing on their root hairs.
research Allopregnanolone Mediates the Exacerbation of Tourette-Like Responses by Acute Stress in Mouse Models
Stress worsens Tourette symptoms by increasing allopregnanolone levels.
research Riboflavin-Responsive Glutaryl CoA Dehydrogenase Deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research Identification of a Novel PNPLA1 Mutation in a Spanish Family with Autosomal Recessive Congenital Ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research From Gene to Therapy in Spinal and Bulbar Muscular Atrophy: Are We There Yet?
Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
research Alopecia in IL-10-Deficient Mouse Pups Is c-Kit-Dependent and Can Be Triggered by Iron Deficiency
Hair loss in certain young mice is linked to a specific gene and can be caused by lack of iron.
research A Japanese Case of Ichthyosis Follicularis with Atrichia and Photophobia Syndrome with an MBTPS2 Mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Sebaceous Gland Abnormalities in Fatty Acyl CoA Reductase 2 (Far2) Null Mice Result in Primary Cicatricial Alopecia
Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.
research Adam10 Haploinsufficiency Causes Freckle-Like Macules in Hairless Mice
A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
research Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (Hr^rh-R) in the Hairless Gene (Hr)
A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.
research Hair Follicle Disruption Facilitates Pathogenesis to UVB-Induced Cutaneous Inflammation and Basal Cell Carcinoma Development in Ptch+/- Mice
Damaged hair follicles make mice more prone to skin inflammation and skin cancer after UV exposure.
research Site of Beige and Leaden Pigment Gene Expression Determined by Recombinant Embryonic Skin Grafts and Aggregation Mouse Chimaeras Employing Sash Homozygotes
Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.
research Testicular Steroidogenesis: Production and Regulation of Testosterone and Dihydrotestosterone
Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
research Gender Specificity of a Genetic Variant of Androgen Receptor and Risk of Coronary Artery Disease
A genetic variant in the androgen receptor gene increases heart disease risk in women but not in men.
research The Estrogen Receptor 2 (ESR2) Gene in Female-Pattern Hair Loss: Replication of Association with rs10137185 in German Patients
ESR2 gene linked to female-pattern hair loss.
research Abstracts of 42nd National Conference of Association of Clinical Biochemists of India (ACBICON 2015)
The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
research Multiple Endocrine Defects in Adult-Onset Sprouty1/2/4 Triple Knockout Mice
Removing Sprouty genes in mice causes various hormone-related issues but does not increase cancer risk by one year of age.
research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Oral Presentations: Findings from Dermatological Studies
The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research Abstracts
Mice treatments didn't grow hair, a patient treatment may affect immune response, and people with hair loss often feel anxious or depressed.
research Molecular Genetics of Androgen Insensitivity
Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
research Tumor Cell Adhesion as a Risk Factor for SLN Metastasis and Predictor of Disease Recurrence in Primary Cutaneous Melanoma
Tumor cell adhesion is linked to higher risk of SLN metastasis and melanoma recurrence, and a model including these factors predicts these outcomes better than one with just clinical data.