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.
[object Object] 55 citations,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
54 citations,
November 2015 in “Methods in enzymology on CD-ROM/Methods in enzymology” Keratins are important for skin cell health and their problems can cause diseases.
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.
53 citations,
February 2022 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” AMH helps estimate ovarian reserve but doesn't predict pregnancy chances; age is more important.
53 citations,
June 2012 in “Annales d'Endocrinologie” The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
53 citations,
January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
47 citations,
December 2020 in “Journal of the European Academy of Dermatology and Venereology” The document concludes that understanding and treating hair loss requires recognizing its various types and using appropriate diagnostic tools and treatments.
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.
43 citations,
August 2018 in “Cell Stem Cell” Hoxc genes control hair growth through Wnt signaling.
40 citations,
April 2018 in “Endocrine” PFS and PSSD are similar conditions with persistent sexual dysfunction after stopping medication.
38 citations,
October 2006 in “Fertility and Sterility” The document concludes that identifying the cause of amenorrhea is crucial for proper treatment.
33 citations,
November 2006 in “Survey of Ophthalmology” Madarosis is the loss of eyelashes and eyebrows due to various health issues and requires thorough examination to diagnose and treat the underlying cause.
32 citations,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
31 citations,
January 2003 in “Dermatology” Steroidogenic isoenzymes may help improve treatments for common hair loss.
31 citations,
February 1997 in “The Journal of Clinical Endocrinology and Metabolism” People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
30 citations,
July 2004 in “Fertility and Sterility” Amenorrhea is when a woman doesn't have periods, with primary amenorrhea starting by age 15 or within five years of breast development, and secondary amenorrhea when periods stop for three months. It affects 3-4% of women not pregnant, breastfeeding, or in menopause, mainly due to polycystic ovary syndrome, hypothalamic amenorrhea, hyperprolactinemia, and ovarian failure.
29 citations,
March 2019 in “British Journal of Dermatology” Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
29 citations,
May 2018 in “Clinical Endocrinology” Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
29 citations,
December 2016 in “The EMBO Journal” Gata6 is important for protecting hair growth cells from DNA damage and keeping normal hair growth.
[object Object] 29 citations,
January 2007 in “American Journal of Clinical Dermatology” Eyebrow loss has many causes and requires accurate diagnosis for proper treatment.
28 citations,
January 2018 in “Biochemical Society Transactions” Certain fats in the skin help control inflammation and health, and changing these fats through diet or supplements might treat skin inflammation.
28 citations,
January 2017 in “Critical Reviews in Therapeutic Drug Carrier Systems” Nanomaterials in biomedicine can improve treatments but may have risks like toxicity, needing more safety research.
27 citations,
July 2017 in “European Journal of Dermatology” Certain microRNAs are linked to various skin diseases and could be used to diagnose and treat these conditions.
27 citations,
September 2014 in “JAMA dermatology” Female donor to male recipient sex mismatch and positive ACA-IgG are key risk factors for vitiligo and alopecia areata in chronic GvHD patients.
27 citations,
December 2013 in “Endocrinology” Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.
26 citations,
June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
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,
April 2018 in “Electromagnetic biology and medicine” Mobile phone radiation may cause DNA damage in human ear hair follicle cells.
25 citations,
November 2014 in “Ageing Research Reviews” Skin aging is caused by stem cell damage and can potentially be delayed with treatments like antioxidants and stem cell therapy.