117 citations
,
May 2017 in “Human Reproduction Update” The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
18 citations
,
April 2013 in “PLOS ONE” Mice with autoimmune hair loss showed signs of heart problems.
1 citations
,
February 2023 in “Frontiers in Endocrinology” Childhood growth hormone deficiency can be accurately diagnosed using gene expression data and random forest analysis.
184 citations
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September 2006 in “PLoS Genetics” The Apc gene is crucial for normal skin and thymus development.
129 citations
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January 2019 in “Clinical medicine insights” Obesity worsens PCOS symptoms, and PCOS may lead to more weight gain; managing both requires a holistic approach that includes mental health.
104 citations
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May 2003 in “Endocrinology” Lampreys have a functional vitamin D receptor that may help detoxify harmful substances.
84 citations
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April 2002 in “Archives of Dermatology” Loose anagen hair syndrome may be caused by keratin gene mutations.
55 citations
,
August 2008 in “Reviews in endocrine and metabolic disorders” Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
51 citations
,
January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
32 citations
,
February 2024 in “Growth Hormone & IGF Research” Dihydrotestosterone (DHT) stops hair growth in mice by lowering a growth factor important for hair.
28 citations
,
March 2010 in “British Journal of Dermatology” Genetic marker rs12558842 strongly linked to male hair loss.
28 citations
,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
26 citations
,
September 1999 in “Canadian Journal of Botany” The RHD4 gene is crucial for consistent root hair growth in Arabidopsis thaliana.
16 citations
,
January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
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.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
10 citations
,
September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
9 citations
,
June 2017 in “Pharmacological Reports” ATP-sensitive potassium channels play a role in chloroquine-induced itch in mice.
9 citations
,
June 2014 in “Nutrition and Cancer” Eclipta alba extract may work as an anticancer agent and help reverse drug resistance.
9 citations
,
January 2011 in “EXPERIMENTAL ANIMALS” A new rat strain with a specific gene mutation causes hair loss and kidney issues.
8 citations
,
January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
7 citations
,
April 2004 in “International Journal of Dermatology” The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
5 citations
,
September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.
3 citations
,
September 2023 in “Genes” Dkk genes evolved faster in birds and reptiles, affecting hair development functions.
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
3 citations
,
April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
2 citations
,
March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
2 citations
,
January 2002 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
2 citations
,
October 2001 in “Mycoses” A cat had a rare fungal infection caused by Microsporum gypseum.