15 citations,
April 2016 in “Hormones” Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
9 citations,
July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
September 2016 in “Journal of Dermatological Science” A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
37 citations,
March 2012 in “International Journal of Radiation Biology” Mobile phone radiation can cause DNA damage in human hair root cells.
Alopecia areata patients have higher levels of certain immune receptors, suggesting new treatment possibilities.
14 citations,
October 2020 in “Scientific reports” Hair greying is linked to reduced ATM protein in hair cells, which protects against stress and damage.
14 citations,
April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
74 citations,
June 2018 in “Cell death and disease” Restoring mitochondrial function in mice reversed their skin wrinkling and hair loss.
218 citations,
September 2012 in “Gastroenterology” Colorectal cancer development involves both genetic changes and epigenetic alterations like DNA methylation and microRNA changes.
6 citations,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
5 citations,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
94 citations,
April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
62 citations,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
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.
3 citations,
February 2018 in “Human Reproduction” A man with testotoxicosis was fertile despite low FSH levels, suggesting high testosterone may allow sperm production without FSH.
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.
197 citations,
June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
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.
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.
11 citations,
August 2019 in “The Journal of Sexual Medicine” Women with nonclassic congenital adrenal hyperplasia experience more sexual dysfunction and distress.
9 citations,
February 2013 in “Hormone and Metabolic Research” Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
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.
7 citations,
December 2014 in “Gynecological Endocrinology” LC-MS/MS is more reliable than immunoassays for diagnosing 21-hydroxylase deficiency.
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.
3 citations,
October 2018 in “Archives of Dermatological Research” Applying InlB321/15 to wounds sped up healing in mice.
December 2021 in “Research Square (Research Square)” Hair follicle sampling is a feasible method to measure FMRP and FMR1 mRNA levels in children.
10 citations,
November 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
1 citations,
January 2024 in “International journal of molecular sciences” MicroRNAs could be key biomarkers and therapeutic targets for PCOS.
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.