research Congenital Hair Loss Disorders: Rare, But Not Too Rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
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research Management of the Female With Non-Classical Congenital Adrenal Hyperplasia: A Patient-Oriented Approach
The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.
research Rare and Common Genetic Determinants of Metabolic Individuality and Their Effects on Human Health
Genetic variations greatly affect individual metabolism and can impact health and disease risk.
research What Does Acne Genetics Teach Us About Disease Pathogenesis?
Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
research Candidate SNP Markers of Reproductive Potential Predicted by Significant Change in Affinity of TATA-Binding Protein for Human Gene Promoters
Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
research Exome-Wide Age-Of-Onset Analysis Reveals Exonic Variants In ERN1 And SPPL2C Associated With Alzheimer’s Disease
Researchers found two new genetic variants linked to Alzheimer's disease.
research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
research Marie-Unna Hereditary Hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Nonclassical Congenital Adrenal Hyperplasia and Pregnancy
Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
research Genetic Analysis Does Not Confirm Non-Classical Congenital Adrenal Hyperplasia in More Than a Third of Women Followed with This Diagnosis
Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
research Nanostructured Lipid Carriers Promote Percutaneous Absorption and Hair Follicle Targeting of Tofacitinib for Treating Alopecia Areata
Nanostructured lipid carriers effectively deliver tofacitinib to hair follicles, reversing hair loss in alopecia areata.
research Phenotypic Heterogeneity in Human Genetic Diseases: Ultrasensitivity-Mediated Threshold Effects as a Unifying Molecular Mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Genetic Screening of Non-Classic CAH Females with Hyperandrogenemia Identifies a Novel CYP11B1 Gene Mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research A Genetic Test for Androgenetic Alopecia: Polymorphisms in the Androgen Receptor Gene Provide a Genetic Screening Test for Androgenetic Alopecia and Earlier Medical Intervention
A genetic test can identify people at risk of male pattern baldness early, allowing for quicker treatment.
research Common Variants in the Sex Hormone-Binding Globulin Gene (SHBG) and Polycystic Ovary Syndrome (PCOS) in Mediterranean Women
Certain genetic variations in the SHBG gene are linked to an increased or decreased risk of PCOS in Mediterranean women.
research Enhancing Diagnostic Yield of Monogenic Diabetes Through Phenotypic and Molecular Reanalysis of 128 Individuals With Young Onset Hyperglycemia: Highlighting the Significance of Accurate Case Characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Nanostructured Lipid Carrier for Hyperpigmentation Treatment: A Dermal Perspective
Nanostructured lipid carriers are effective for treating hyperpigmentation in women aged 30-40.
research Role of Cholesterol Sulfate in Epidermal Structure and Function: Lessons from X-Linked Ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research The Genetics of Hair Shaft Disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
research Primary Generalized Glucocorticoid Resistance And Hypersensitivity
The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
research Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Keratosis Follicularis Spinulosa Decalvans in a Female
A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
research Congenital Adrenal Hyperplasia: A Detailed Review of 21-Hydroxylase Deficiency
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient
The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research Association of Follicle-Stimulating Hormone Receptor Gene Ser680Asn (rs6166) Polymorphism with Polycystic Ovarian Syndrome
A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.