22 citations,
January 2008 in “Physiological Research” Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
62 citations,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
152 citations,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
15 citations,
November 2023 in “Immunity & ageing” TLR4 is important in aging-related diseases and could be a new treatment target.
1 citations,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
11 citations,
August 2019 in “The Journal of Sexual Medicine” Women with nonclassic congenital adrenal hyperplasia experience more sexual dysfunction and distress.
205 citations,
September 2018 in “Nutrients” Essential oils from Curcuma species, like turmeric, have compounds that can fight inflammation, cancer, and bacteria, and can also stimulate hair regrowth in bald males.
December 2021 in “Research Square (Research Square)” Hair follicle sampling is a feasible method to measure FMRP and FMR1 mRNA levels in children.
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.
9 citations,
February 2013 in “Hormone and Metabolic Research” Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
3 citations,
October 2018 in “Archives of Dermatological Research” Applying InlB321/15 to wounds sped up healing in mice.
7 citations,
December 2014 in “Gynecological Endocrinology” LC-MS/MS is more reliable than immunoassays for diagnosing 21-hydroxylase deficiency.
December 2022 in “Journal of neurodevelopmental disorders” Hair follicle sampling is a practical method for measuring biomarkers in children with and without Fragile X syndrome.
2 citations,
July 2022 in “Journal of the Endocrine Society” Some women with PCOS have rare genetic variants linked to the condition.
28 citations,
September 2008 in “Current Pharmaceutical Design” Allergic reactions to blood thinners are rare but can be serious, requiring careful management and alternative treatments.
197 citations,
June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
20 citations,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
139 citations,
September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
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.
6 citations,
December 2021 in “International Journal of Endocrinology” The genetic variant studied does not affect PCOS symptoms in Kashmiri women.
4 citations,
February 2015 in “Journal of Clinical Laboratory Analysis” A genetic variant in the androgen receptor gene increases heart disease risk in women but not in men.
76 citations,
September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
124 citations,
September 1992 in “Endocrinology” The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
91 citations,
May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
249 citations,
April 2002 in “The FASEB journal” Human skin can make serotonin and melatonin.
2 citations,
September 2023 in “Aging” Elastic Net DNA methylation clocks are inaccurate for predicting age and health status; a "noise barometer" may better indicate aging and disease.
7 citations,
January 2019 in “Australasian Journal of Dermatology” A genetic marker linked to a type of hair loss was found in most patients studied.
1 citations,
August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
25 citations,
April 2018 in “Electromagnetic biology and medicine” Mobile phone radiation may cause DNA damage in human ear hair follicle cells.
4 citations,
September 2010 in “Journal of Medical Case Reports” A man developed autoimmune issues after a transplant, improved with treatment, but died from leukemia relapse.