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March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
5 citations,
May 2017 in “Journal of dermatological science” The combined treatment effectively managed severe skin issues in Olmsted syndrome.
April 2023 in “International journal of molecular sciences” People with Collagen VI-related myopathies may often have hair loss and scalp issues.
188 citations,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
November 2022 in “The Journal of Clinical Endocrinology and Metabolism” Postmenopausal hyperandrogenism, a condition with symptoms like increased hair growth and acne, is usually caused by PCOS but can also be due to other factors. It's diagnosed by checking testosterone levels and treated either by removing the adrenal tumor or through antiandrogen therapy.
24 citations,
December 2018 in “Inflammation and Regeneration” Phospholipase A2 enzymes play key roles in skin health and disease.
1 citations,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
578 citations,
April 1993 in “Cell” TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.
179 citations,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
8 citations,
October 1988 in “Clinics in dermatology” The best animal model for studying male-pattern baldness is the stumptailed macaque, not rats or mice.
11 citations,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
5 citations,
May 2019 in “Hormone and Metabolic Research” Women with nonclassic 21-hydroxylase deficiency can have successful pregnancies through IVF, with certain factors affecting their chances.
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.
277 citations,
July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
30 citations,
October 2020 in “Nature Communications” Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.
22 citations,
March 2000 in “Clinics in Dermatology” Many treatments for hair loss lack proper testing and FDA approval, so their effectiveness is uncertain.
17 citations,
February 2015 in “Cell Death and Disease” Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
16 citations,
December 2001 in “Dermatologic Therapy” Alopecia areata has a complex genetic basis that was not fully understood as of 2001.
8 citations,
April 2020 in “Facial Plastic Surgery Clinics of North America” Minoxidil, finasteride, and low-level laser light therapy are effective FDA-approved treatments for hair loss.
7 citations,
October 1985 in “Genetics Research” Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.
February 2006 in “Journal of The American Academy of Dermatology” Terbinafine is more effective than itraconazole for toenail fungus, especially in older patients, and debridement improves its effectiveness.
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January 2004 in “Fertility and Sterility” The 2003 consensus updated PCOS diagnosis criteria and highlighted increased risks of diabetes and heart disease for those affected.
70 citations,
March 2016 in “Urologic Clinics of North America” The document explains how the male reproductive system works, its role in making testosterone, and how conditions like obesity can disrupt it, leading to low testosterone and fertility issues.
50 citations,
January 2016 in “The FEBS journal” RANK is a key target in breast cancer treatment due to its role in tumor growth and bone metastasis.
31 citations,
October 2002 in “Dermatologic Surgery” Minoxidil helps stabilize hair loss, increase density, and reduce shedding after hair transplant surgery.
26 citations,
July 2007 in “Biochemical Pharmacology” ISCK03 stops melanin production in human melanoma cells and lightens skin color in mice and guinea pigs.
8 citations,
January 2012 in “JIMD reports” A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
5 citations,
October 2012 in “Journal of Midwifery & Women's Health” Healthcare providers should start with simple fertility tests and treatments before referring patients to specialists.
2 citations,
October 2022 in “Frontiers in genetics” Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
1 citations,
October 2002 in “Dermatologic Surgery” Minoxidil can increase hair density, speed up regrowth in transplanted hair, and slow down further hair loss, especially beneficial for women, young men with thinning hair, and those wanting to reconstruct the back of the scalp.