September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
260 citations
,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
245 citations
,
January 2018 in “Bone Research” TGF-β is crucial for tissue repair and can cause diseases if not properly regulated.
223 citations
,
September 2018 in “Rheumatology” JAK inhibitors are effective in treating various immune-related diseases, not just rheumatoid arthritis.
222 citations
,
October 2014 in “Annual Review of Pharmacology and Toxicology” Eph receptors and ephrins may be promising targets for treating diseases, but more understanding is needed for effective and safe therapies.
176 citations
,
January 2003 in “Journal of Investigative Dermatology” Bone Morphogenetic Proteins (BMPs) help control skin health, hair growth, and color, and could potentially be used to treat skin and hair disorders.
139 citations
,
July 1991 in “Journal of The American Academy of Dermatology” Understanding hair follicle anatomy helps diagnose hair disorders.
117 citations
,
November 2006 in “Experimental Dermatology” The article concludes that the wool follicle is a valuable model for studying tissue interactions and has potential for genetic improvements in wool production.
103 citations
,
March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
99 citations
,
July 2012 in “PLoS Genetics” A mutation in the KRT75 gene causes frizzle feathers in chickens.
97 citations
,
March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
96 citations
,
October 2000 in “The FASEB Journal” The p75 neurotrophin receptor is important for hair follicle regression by controlling cell death.
77 citations
,
March 2014 in “Cold Spring Harbor Perspectives in Medicine” Fat cells are important for healthy skin, hair growth, and healing, and changes in these cells can affect skin conditions and aging.
70 citations
,
June 2010 in “Clinics in Dermatology” Certain groups may need vitamin supplements to improve hair health and prevent other health problems.
56 citations
,
April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
54 citations
,
October 2023 in “Oncogene” p63 is essential for controlling epithelial stem cells and tissue health.
50 citations
,
February 2007 in “Clinical obstetrics and gynecology” Early detection and treatment of PCOS in teenagers is important to manage symptoms and prevent severe issues.
47 citations
,
July 2013 in “Pharmacological Reviews” Regenerative pharmacology, which combines drugs with regenerative medicine, shows promise for repairing damaged body parts and needs more interdisciplinary research.
46 citations
,
September 2011 in “Journal of Endocrinology” Natural 5α-reduced glucocorticoids might be anti-inflammatory with fewer side effects than current options.
46 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting Acvr1b in mice causes severe hair loss and thicker skin.
44 citations
,
April 2008 in “The Journal of Clinical Endocrinology & Metabolism” Women with PCOS have similar levels of certain proteins compared to women without PCOS, and these proteins don't independently cause PCOS.
38 citations
,
January 2014 in “International Journal of Endocrinology” Adrenal disorders can cause lasting brain and behavior issues in children.
36 citations
,
August 2018 in “Dermatologic Clinics” Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.
32 citations
,
February 2017 in “Human Reproduction” Women with polycystic ovary syndrome tend to have a longer anogenital distance.
25 citations
,
July 2019 in “Experimental Dermatology” Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.
25 citations
,
June 2012 in “Endocrine” PCOS may start before birth, involves metabolic issues, and can be treated with drugs like metformin and lifestyle changes.
21 citations
,
January 2020 in “General and Comparative Endocrinology” Lack or blocking of SRD5a, a key component in hormone creation, can lead to conditions like pseudohermaphrodism and affect hair growth, bone mass, muscle strength, and reproductive health. More research is needed on its regulation from fertilization to adulthood.
19 citations
,
February 2018 in “Nutrients” Certain zinc transporters are essential for healthy skin and managing zinc in the body could help treat skin problems.
14 citations
,
November 2020 in “International Journal of Molecular Sciences” Advanced therapies like gene, cell, and tissue engineering show promise for hair regrowth in alopecia, but their safety and effectiveness need more verification.
12 citations
,
June 2016 in “Reviews in Endocrine and Metabolic Disorders” Some skin diseases and their treatments can negatively affect male fertility.