20 citations,
June 2022 in “Molecules” Thiazole, a sulfur and nitrogen chemical, is useful in creating potential drugs for conditions like seizures, cancer, bacterial infections, tuberculosis, inflammation, malaria, viruses, Alzheimer's, diabetes, and A1-receptor issues.
1 citations,
May 2024 in “International Journal of Molecular Sciences” Adenosine receptors could be promising targets for treating inflammatory skin diseases like psoriasis.
8 citations,
July 2022 in “Biomedicines” Autophagy helps keep skin healthy and may improve treatments for skin diseases.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
24 citations,
November 1974 in “Scottish medical journal” Diabetes often causes various skin problems and complications.
10 citations,
January 2023 in “Acta dermato-venereologica” Baricitinib and deuruxolitinib are effective for treating alopecia areata, but their efficacy depends on the dose.
1533 citations,
October 2008 in “Endocrine reviews” Mice without the vitamin D receptor have bone issues and other health problems, suggesting vitamin D is important for preventing various diseases in humans.
37 citations,
September 2008 in “The American journal of surgical pathology” Hair follicle hyperplasia is common in both benign and malignant skin lymphoproliferative disorders, with a proposed new term "pseudolymphomatous adnexitis."
April 2011 in “한국생물공학회 학술대회” Lotion with fucoidan from brown seaweed improved skin and reduced allergy symptoms in mice with dermatitis.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
39 citations,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
Lifestyle factors like BMI at young adulthood can increase cancer risk in women with Lynch Syndrome, but diet and height don't seem to affect this risk.
1 citations,
April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
January 2024 in “Clinical, cosmetic and investigational dermatology” A child with a rare vitamin D-resistant condition improved with treatment.
2 citations,
October 2018 in “The journal of pediatrics/The Journal of pediatrics” The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
January 2024 in “Pediatric Dermatology” Minoxidil improved hair growth in a child with a rare genetic disorder.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
November 2022 in “Journal of the Endocrine Society” A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
2 citations,
December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
1 citations,
September 2021 in “Dermatologic Therapy” Botulinum toxin injections effectively relieve pain from cutaneous leiomyomas.
1 citations,
March 2024 in “Signal transduction and targeted therapy” NF-κB signaling is crucial in many diseases and can be targeted for new treatments.
43 citations,
April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
3 citations,
January 2024 in “Signal transduction and targeted therapy” Lymphatic vessels are essential for health and can be targeted to treat various diseases.
February 2022 in “International journal of research in dermatology” The document concludes that proper diagnosis and treatment of hair shaft disorders require understanding their unique causes and avoiding hair-damaging practices.
May 2012 in “Nature Genetics” Blond hair in Solomon Islanders is due to a unique genetic variant, not European ancestry.
20 citations,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.