15 citations,
April 2002 in “British Journal of Dermatology” Hairless gene not strongly linked to baldness.
3 citations,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
1 citations,
May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
47 citations,
June 2011 in “Movement Disorders” The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
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.
43 citations,
December 2013 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
42 citations,
July 2007 in “Journal of Biological Chemistry” Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
1 citations,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
30 citations,
June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
24 citations,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
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.
4 citations,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
15 citations,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
1 citations,
September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
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,
March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
157 citations,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
71 citations,
February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
28 citations,
October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
19 citations,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
9 citations,
March 2015 in “International reviews of immunology” Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
9 citations,
January 2015 in “Current problems in dermatology” Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.
6 citations,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
3 citations,
June 2017 in “Reproductive biomedicine online” A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
2 citations,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
34 citations,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.