research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
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research Androgenetic Alopecia: Causes, Treatments, and Genetic Factors
Heredity and hormones cause common hair loss, and topical minoxidil is the first recommended treatment.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research First Case of V281+I172N/V281L CYP21A2 Genotype Associated with Congenital Adrenal Hyperplasia: A Case Report from Southern Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research Dermatomyositis Disease in Dogs
Dogs with dermatomyositis, especially Collies and Shetland Sheepdogs, need better treatments for their skin and muscle inflammation.
research Syndromes of Severe Insulin Resistance
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research The Pathophysiology of Polycystic Ovary Syndrome
Insulin resistance is a key factor in polycystic ovary syndrome, but genetics may also contribute.
research Significance of the Polyglutamine Tract Polymorphism in the Androgen Receptor
The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
research Female Pattern Hair Loss: An Overview with Focus on the Genetics
Different genes cause Female Pattern Hair Loss compared to male hair loss, and treatments vary, but more research is needed to understand it fully.
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 Genetics of Diabetes in Childhood
Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
research Using the Zebrafish Lateral Line to Uncover Novel Mechanisms of Action and Prevention in Drug-Induced Hair Cell Death
Zebrafish helped find new ways to prevent drug-induced hair cell death and potential treatments for hearing loss.
research Case Report: Heterozygous Mutation in HTRA1 Causing Typical Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Novel Missense Mutation in the EDA Gene in a Family Affected by Oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research Evaluation of Female Fertility: AMH and Ovarian Reserve Testing
AMH helps estimate ovarian reserve but doesn't predict pregnancy chances; age is more important.
research Kin-Cohort Analysis of LRRK2-G2019S Penetrance in Parkinson's Disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research A Preliminary Study of Finasteride in Tourette Syndrome
Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
research Desferrioxamine Treatment of Aceruloplasminemia: Long-Term Follow-Up
Finasteride may help reduce symptoms in male Tourette syndrome patients.
research Idiopathic CD4+ T-Lymphocytopenia
ICL is a condition with low CD4+ T cells like AIDS but not caused by HIV, and normal CD4+ T cell counts may vary between men and women.
research Pathological Findings in a Case of Stiff Person Syndrome with Anti-GAD Antibodies
Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
research No Evidence for THAP1/DYT6 Variants as Disease Modifiers in DYT1 Dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research Androgen Receptor CAG Repeat Length Is Associated With Ovarian Reserve But Not With Ovarian Response
The length of CAG repeats in the androgen receptor gene is linked to ovarian reserve but does not affect how the ovaries respond to stimulation.
research Mutation in 5′ Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Ability to Cycle Despite Severe Freezing of Gait in Atypical Parkinsonism in Fahr's Syndrome
Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
research Encephalitis Lethargica Due to Epstein–Barr Virus Infection
Finasteride may help reduce tic severity in male Tourette syndrome patients.
research Evidence-Based Medicine in Obstetrics and Gynecology
Accurate diagnosis and timely, tailored treatments improve outcomes in obstetrics and gynecology.
research Congenital Adrenal Hyperplasia: A Comprehensive Review
The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research Nonclassic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Pathophysiology, Diagnosis, and Treatment
The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.
research A Perspective on the Evolving Landscape in Male Reproductive Medicine
Advancements in male reproductive medicine are ongoing, but more research and improved treatments are needed in several areas.