7 citations,
January 2020 in “Journal of Dermatology” Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
7 citations,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
7 citations,
March 2017 in “Medical Hypotheses” Aquaporins could be new drug targets for treating polycystic ovary syndrome.
7 citations,
January 2013 in “Indian dermatology online journal” A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
7 citations,
May 2010 in “Journal of Cutaneous Pathology” A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
7 citations,
January 1994 in “Annual Reports in Medicinal Chemistry” Understanding how androgens work is key for creating new treatments for prostate issues and hair/skin conditions.
6 citations,
October 2020 in “Endocrine journal” A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
6 citations,
August 2012 in “The Journal of Pediatrics” A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
6 citations,
May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
6 citations,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
6 citations,
January 1997 in “Pediatric dermatology” The case suggests a possible link between severe acne and certain bone deformities.
5 citations,
June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
5 citations,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
5 citations,
October 2013 in “Experimental Dermatology” The commentary explains that a balance of HR protein and putrescine is important for normal hair growth.
4 citations,
February 2021 in “Plant journal” OsUEV1B protein is essential for controlling phosphate levels in rice.
4 citations,
July 2020 in “Research Square (Research Square)” The research helps understand how finasteride works and aids drug development.
4 citations,
January 2019 in “Indian Dermatology Online Journal” The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
4 citations,
January 2014 in “Indian dermatology online journal” Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
3 citations,
September 2023 in “Skin research and technology” New treatments for skin damage from UV light using stem cells and their secretions show promise for skin repair without major risks.
3 citations,
January 2021 in “Veterinary dermatology” A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
3 citations,
August 2017 in “Clinical case reports” A rare skin condition causes red and dark patches on the face and limbs.
3 citations,
April 2017 in “Medicine” An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.
3 citations,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
3 citations,
September 2005 in “Experimental dermatology” The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
2 citations,
December 2023 in “International journal of molecular sciences” Understanding keratinization is crucial for treating skin conditions like ichthyoses and psoriasis.
2 citations,
October 2023 in “Philosophical transactions - Royal Society. Biological sciences” Enzymes that change arginine to citrulline are important for skin barrier and hair formation, and their malfunction can lead to skin conditions and hair disorders.
2 citations,
August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
2 citations,
March 2020 in “International Journal of Molecular Sciences” Topical treatments can deliver active molecules to skin stem cells, potentially helping treat skin and hair disorders, including skin cancers and hair loss.
2 citations,
April 2019 in “Journal of the American Society of Nephrology” Fluconazole might be a new treatment for a type of diabetes that affects water balance in the body.
2 citations,
April 2018 in “Journal of Investigative Dermatology” Intralesional chemotherapy with 5-fluorouracil and methotrexate may worsen keratoacanthoma-type skin cancer in transplant patients.