31 citations,
June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
30 citations,
April 2010 in “Cell Cycle” The gene p53 is crucial for removing damaged cells to allow for healthy tissue renewal.
29 citations,
January 2021 in “Translational Psychiatry” The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
29 citations,
December 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
28 citations,
April 2010 in “British Journal of Dermatology” Genetic marker rs12558842 strongly linked to male hair loss.
27 citations,
April 2020 in “Molecular Biology and Evolution” Ancient Chinese goats evolved cashmere-producing traits due to selective breeding, particularly in genes affecting hair growth.
24 citations,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
23 citations,
May 2020 in “Cell Death and Disease” Blocking the FGF5 gene in sheep leads to more fine wool and active hair follicles due to changes in certain cell signaling pathways.
23 citations,
January 2013 in “Indian Journal of Dermatology, Venereology and Leprology” FPHL causes hair loss in women due to genetics and hormones; minoxidil and anti-androgens are treatments, and early intervention is advised.
20 citations,
September 2021 in “Nature communications” Cat color patterns are determined early in development by gene expression and epidermal changes, with the Dickkopf 4 gene playing a crucial role.
19 citations,
August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
17 citations,
June 2019 in “The journal of immunology/The Journal of immunology” A specific DNA region is crucial for Foxn1 gene expression in thymus cells but not in hair follicles.
17 citations,
May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
16 citations,
January 2012 in “European Journal of Endocrinology” The study suggests certain ACE gene variations are more common in women with PCOS and may be linked to increased insulin resistance.
16 citations,
September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
13 citations,
March 2019 in “Pharmacology Research & Perspectives” In Singapore, most skin reactions to drugs were in females and Chinese, often caused by painkillers, antibiotics, and some other drugs, with serious cases linked to genetics.
12 citations,
October 2004 in “Experimental Gerontology” Changes in testosterone and estrogen receptor genes can affect how men age, influencing body fat, hair patterns, and possibly leading to skin disorders.
11 citations,
December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
11 citations,
March 2014 in “Journal of Investigative Dermatology” Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
11 citations,
March 2013 in “Gene” A certain genetic variation in the IL1A gene may lower the risk of a hair loss condition in Chinese people.
11 citations,
November 2012 in “Seminars in Cutaneous Medicine and Surgery” Genetic factors affect hair loss, and molecular testing may help predict, diagnose, and treat it.
10 citations,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
10 citations,
September 1997 in “Molecular carcinogenesis” Mirex seems to promote a unique group of skin cells different from those affected by another tumor promoter, TPA.
9 citations,
September 2015 in “Reproductive Biomedicine Online” Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.
9 citations,
November 2012 in “Archives of Dermatological Research” MC4R gene variants not linked to female hair loss.
8 citations,
December 2020 in “Scientific reports” Selective breeding caused the unique curly hair in Mangalitza pigs.
8 citations,
December 2020 in “The FASEB Journal” Blocking adenosine A2B receptor may prevent or treat hearing loss.
8 citations,
February 2015 in “Cellular immunology” Deleting Snai2 and Snai3 causes fatal autoimmunity.
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.
7 citations,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.