137 citations,
October 2009 in “The American journal of pathology” Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
75 citations,
June 1999 in “Pediatric Clinics of North America” The document concludes that early recognition and treatment of PCOS in adolescents is crucial for managing symptoms and long-term health risks.
54 citations,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
42 citations,
October 2011 in “Seminars in Cell & Developmental Biology” Eph/ephrin signaling is important for skin cell behavior and could be targeted to treat skin diseases.
41 citations,
November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
38 citations,
June 2003 in “Journal of Investigative Dermatology Symposium Proceedings” Accurate clinical, histological, and genetic methods are key for understanding and treating hair disorders.
30 citations,
August 1983 in “Pediatric Clinics of North America” Most hair loss in children is caused by a few common conditions, and it's important to diagnose these properly and support the child's mental health.
28 citations,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
12 citations,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
10 citations,
April 2020 in “Clinics in Dermatology” Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
7 citations,
November 2000 in “Clinics in Dermatology” Most hair loss in children is caused by a few common conditions and is easy to diagnose, but rare types require careful evaluation.
3 citations,
March 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
May 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Primary cilia affect the size and oil production of eye glands but not the oil's makeup.
May 2021 in “GSC Advanced Research and Reviews” Hair color is influenced by genetics and can indicate certain health conditions.
May 2018 in “European Journal of Dermatology” The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
139 citations,
February 2010 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Transplant success has improved with better immunosuppressive drugs and donor matching.
86 citations,
December 2001 in “Experimental dermatology” Mutant mice help researchers understand hair growth and related genetic factors.
74 citations,
September 2006 in “Cell Cycle” The HR protein's role as a repressor is essential for controlling hair growth.
35 citations,
May 2022 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Androgens like testosterone are important hormones for both men and women, made differently in each sex and affecting the body by regulating genes and quick interactions with cell components.
32 citations,
April 2013 in “Anais Brasileiros de Dermatologia” The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
30 citations,
January 2009 in “Nuclear Receptor Signaling” Hairless protein is crucial for healthy skin and hair, and its malfunction can cause hair loss.
22 citations,
January 2018 in “Experimental Dermatology” The meeting focused on understanding, diagnosing, and finding treatments for irreversible hair loss diseases.
20 citations,
July 2008 in “Dermatologic Therapy” The document says that treating the root cause of hair follicle damage is crucial to prevent permanent hair loss, and treatment options vary.
2 citations,
August 2022 in “Emergency medicine international” Keloid skin disorder involves abnormal fibroblast activation and immune response, linked to a group of genes including FGF11.
1 citations,
May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
February 2010 in “Journal of The American Academy of Dermatology” A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
26 citations,
March 2009 in “Dermato-endocrinology” The document concludes that diagnosing and treating Congenital Adrenal Hyperplasia is complex and requires a team approach due to its effects on the skin and other symptoms.
6 citations,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
4 citations,
January 2014 in “Indian dermatology online journal” Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
January 2013 in “International journal of trichology” Vitamin D3 and its receptor are important for hair growth, and understanding receptors could help treat hair graying and skin cancer.