research Unveiling Post-COVID-19 syndrome: incidence, biomarkers, and clinical phenotypes in a Thai population
Many people in Thailand have lingering symptoms after recovering from COVID-19.
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research Genome scan for signatures of adaptive evolution in wild African goat (capra nubiana)
Wild African goats have genetic adaptations for surviving harsh desert conditions.
research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
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 Do men’s faces really signal heritable immunocompetence?
Masculine facial features may not reliably indicate heritable health, and more research is needed.
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 Validation of the follicular and ovarian thresholds by an 18-MHz ultrasound imaging in polycystic ovary syndrome: a pilot cutoff for North African patients
New ultrasound criteria for diagnosing PCOS in North African patients were successfully established.
research Variation in the Exon 3–4 Region of Ovine KRT85 and Its Effect on Wool Traits
KRT85 gene variations can help improve wool traits in sheep through selective breeding.
research Advances in the genetic understanding of hypohidrotic ectodermal dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research The Telomerase Reverse Transcriptase (TERT) Gene Molecular Characterization in Sheep and the Association of Its Variation with Wool Traits
Certain gene variations in sheep are linked to stronger wool.
research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
research Sources of variation in hair cortisol in wild and captive non-human primates
Hair cortisol levels in primates are useful for stress assessment but vary by age, sex, species, and hair collection methods.
research Health-related quality of life in women with polycystic ovary syndrome attending to a tertiary hospital in Southeastern Spain: a case-control study
Women with Polycystic Ovary Syndrome (PCOS) have a lower health-related quality of life, especially those with an anovulatory phenotype, and may need specific interventions to improve it.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Assessment of hair and cashmere properties and their genetic background of several goat breeds in Southwest China
Crossbreeding improves goat fiber quality, and specific genes affect hair traits and color.
research Filaggrin mutations as an archetype for understanding the pathophysiology of atopic dermatitis
Filaggrin mutations are linked to atopic dermatitis and help explain how genetics and environment affect the disease.
research Variation in Ovine KRTAP13-3 and Its Association with Wool Characteristics in Chinese Tan Sheep
The KRTAP13-3 gene affects wool fibre diameter variability in Chinese Tan sheep.
research The Polycystic Ovary Syndrome - Challenges and Opportunities in Adolescent Medicine
Early treatment of PCOS in teens is crucial to prevent long-term health issues like diabetes and heart disease.
research POS0548 ACUTE AND SUBACUTE SKIN MANIFESTATIONS OF SYSTEMIC LUPUS ERYTHEMATOSUS ARE ASSOCIATED WITH AN EARLIER RESPONSE TO BELIMUMAB THAN THE CHRONIC PHENOTYPE: PRELIMINARY DATA FROM THE NEW NATION-WIDE COHORT OF BELIMUMAB IN REAL LIFE SETTING STUDY—NEW JOINT AND SKIN (BERLISS-NEJS)
Patients with acute and subacute skin lupus respond faster to belimumab than those with chronic skin lupus.
research Uncombable hair syndrome and beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
research Health-related quality of life in adult Mediterranean women with polycystic ovary syndrome attending to a tertiary hospital: a case-control study.
Women with PCOS have worse physical health but similar mental health compared to those without PCOS.
research 0877 Activated wound phenotype and microbial dysbiosis are driven by AhR suppression in hidradenitis suppurativa tunnels
Reduced AhR signaling in HS tunnels leads to persistent inflammation and microbial imbalance.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research HSP90 Inhibition and Cellular Stress Elicits Phenotypic Plasticity in Hematopoietic Differentiation
Inhibiting HSP90 increases cell adaptability and survival under stress.
research Predicting Human Appearance from DNA for Forensic Investigations
DNA can predict physical traits like eye and hair color accurately, especially in Europeans, but predicting other traits and in diverse populations needs more research.
research Human Pigmentation: A Review of Molecular Mechanisms, Genetic Architecture, Evolution, Forensic DNA Phenotyping and Health Implications
Human pigmentation is influenced by many genetic and environmental factors, affecting traits like skin, hair, and eye color, with implications for health and forensic applications.
research Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability
New genetic locations explain much of hair color variation in Europeans.
research Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review
Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
research Cell-Based Model Systems for Validation of Various Efficacy-Based Claims for Cosmetic Ingredients
Cell-based models help test if cosmetic ingredients really work for hair growth and skin health.