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 Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research The association between serum zinc levels and subjective symptoms in zinc deficiency patients with chronic liver disease
Low zinc levels in chronic liver disease patients are linked to more severe symptoms like taste issues and skin problems, and zinc supplements might help.
research Single hair analysis by X-ray fluorescence spectrometry detects small changes in dietary zinc intake: A nested randomized controlled trial
Hair analysis can detect small changes in dietary zinc intake.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research Requirement of zinc transporter ZIP10 for epidermal development: Implication of the ZIP10–p63 axis in epithelial homeostasis
ZIP10 is crucial for skin development and maintaining healthy skin.
research Mechanistic and therapeutic insight into the effects of cinnamon in polycystic ovary syndrome: a systematic review
Cinnamon can help manage symptoms of polycystic ovary syndrome, improve menstrual cycles and fertility, and positively affect cholesterol and blood sugar levels, but more research is needed to confirm these effects and find the best dosage.
research Brown adipose tissue in the form of innovative approach for polycystic ovary syndrome treatmentstill long time to reach clinical arena: a narrative review
Brown Adipose Tissue (BAT) could potentially treat Polycystic Ovary Syndrome (PCOS) by controlling energy balance and lipid homeostasis, but more human research is needed.
research Novel insights into the molecular mechanisms underlying generalized glucocorticoid resistance and hypersensitivity syndromes
Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research The emerging roles of N6-methyladenosine (m6A) deregulation in polycystic ovary syndrome
m6A deregulation plays a key role in PCOS and could lead to new treatments.
research High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research Polycystic ovary syndrome and its management: In view of oxidative stress
Lifestyle changes, exercise, and antioxidants can help manage polycystic ovary syndrome.
research Bloom's syndrome–‐a first report from India
A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
research NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy
An American Bully with a genetic skin condition improved significantly with specific topical treatments.
research Immunological and Metabolic Causes of Infertility in Polycystic Ovary Syndrome
PCOS causes infertility mainly due to hormonal imbalances, insulin resistance, and chronic inflammation.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Exploring links between acne and metabolic syndrome: a narrative review
Acne may signal underlying metabolic issues, and lifestyle changes can help manage both.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities
Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review
Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
research Food and medicine homology: a potential nutritional intervention strategy for post-acute COVID-19 syndrome
FMH foods may help manage post-acute COVID-19 symptoms safely and easily.
research Desferrioxamine treatment of aceruloplasminemia: Long‐term follow‐up
Finasteride may help reduce symptoms in male Tourette syndrome patients.
research Encephalitis lethargica due to Epstein–Barr virus infection
Finasteride may help reduce tic severity in male Tourette syndrome patients.
research Host Genetic Susceptibility and Impacts of Dietary Factors on Covid-19
Certain genes and nutrients like vitamin D, zinc, and omega fatty acids affect COVID-19 severity and infection risk.
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.