research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
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research Study on Autoimmune Thyroid Disorders in Chronic Spontaneous Urticaria at a Tertiary Care Central Rural Hospital in India
People with chronic hives should be tested for thyroid autoimmunity to manage their condition better.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Bioengineering a humanized acne microenvironment model: Proteomics analysis of host responses to Propionibacterium acnes infection in vivo
A new model helps study acne and test treatments.
research Bioengineered Skin Intended as In Vitro Model for Pharmacosmetics, Skin Disease Study and Environmental Skin Impact Analysis
Bioengineered skin models help reduce animal testing and advance research in cosmetics and skin disease.
research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research COLLAB: A Global Survey of Clinical and Laboratory Assessment in Alopecia Areata by Hair Specialists
Hair specialists vary in testing for alopecia areata, highlighting the need for standard guidelines.
research When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
research Developing Patient-Derived 3D-Bioprinting models of pancreatic cancer
3D-bioprinting models of pancreatic cancer could help personalize treatments but need more testing.
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 Current Protocols: Alopecia Areata Mouse Models for Drug Efficacy and Mechanism Studies
The C3H/HeJ mouse model is useful for studying and testing treatments for alopecia areata.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Exploring the Chorioallantoic Membrane (CAM) as a Platform for Burn Wound Modelling and Analysis
The CAM is a useful model for studying burn wounds and testing treatments.
research Finasteride: The First 5α-Reductase Inhibitor
Finasteride treats enlarged prostate and baldness, but may cause limited urinary improvement and sex-related side effects.
research Androgenetic alopecia as an early marker for hypertension
Men with androgenetic alopecia may have higher blood pressure, suggesting early screening for hypertension.
research Alopecia Areata in Twins With Autoimmune Thyroiditis: Personal Observations
The study found that alopecia areata is strongly linked to autoimmune diseases and may indicate a genetic predisposition to such conditions.
research Trailing the Path to Preventive Oncology
Preventing cancer involves lifestyle changes, vaccinations, early screening, and understanding cancer's molecular basis.
research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Type 1 Diabetes Mellitus and Autoimmune Diseases: A Critical Review of the Association and the Application of Personalized Medicine
Type 1 diabetes often occurs with other autoimmune diseases, and personalized treatment based on genetics can improve outcomes.
research Caring for women with polycystic ovary syndrome
Treating PCOS is complex, involving medication like metformin and lifestyle changes, and requires attention to mental health due to high depression and anxiety rates.
research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
research Editor’s picks January 2021
PrEP doesn't increase STI risk in high-risk men, anti-androgen drugs may lower ICU admission for male COVID-19 patients, a 3-point injection is better for crow's feet, and the 'Geriatric-8' tool could help assess frailty in older skin cancer patients.
research Eating disorders
Eating disorders are serious, often undiagnosed conditions requiring early treatment, with anorexia being the most deadly and binge-eating the most treatable.
research Prostate cancer and androgenic alopecia
The document suggests more research is needed to understand the link between baldness and prostate cancer.
research The Color Blindness Disorders and the Role of Sex-Linked Genes
No link between finger length ratios and color blindness was found.
research Preparation of Anticancer Extract
Hibiscus micranthus leaf extract is safe and effective for antibacterial and wound healing.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.