25 citations
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September 2015 in “Clinical Endocrinology” Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
1 citations
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August 2024 in “Journal of Pharmacy & Pharmaceutical Sciences” The DPCP/HPβCD complex improves solubility and anti-inflammatory effects for alopecia areata treatment.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
78 citations
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November 2005 in “Endocrinology” Hairless protein can block vitamin D activation in skin cells.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
May 2025 in “The Journal of Rheumatology” Middle-aged women with dilated cardiomyopathy should be screened for antiphospholipid syndrome.
41 citations
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January 2000 in “Hormone Research in Paediatrics” Cortisone reductase deficiency can cause high androgen and cortisol levels and may be missed in women with similar symptoms.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
January 2014 in “Reactions Weekly” A woman experienced unusual hair loss and skin reactions after taking phenobarbital, but her hair grew back after treatment.
January 2024 in “Clinical, cosmetic and investigational dermatology” A child with a rare vitamin D-resistant condition improved with treatment.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
1 citations
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April 2013 in “The FASEB Journal” 3α‐OH‐DHP is essential for reducing nerve activity related to blood pressure control during pregnancy.
4 citations
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January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
2 citations
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April 2013 in “Expert Review of Endocrinology & Metabolism” Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
7 citations
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February 2012 in “Journal of cutaneous pathology” The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
49 citations
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September 2015 in “Psychoneuroendocrinology” 5α-reductase affects dopamine receptors linked to sensorimotor gating, which may help understand disorders like schizophrenia.
45 citations
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August 2010 in “Hormone Molecular Biology and Clinical Investigation” Type 3 5α-reductase is more common and finasteride and dutasteride strongly inhibit it.
October 2020 in “The American Journal of Gastroenterology” Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
31 citations
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November 2015 in “PloS one” Reducing Tyrosinase prevents mature color pigment cells from forming in mouse hair.
Retinoids or their analogs could treat skin pigmentation disorders like melasma and vitiligo.
6 citations
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January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
12 citations
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April 2014 in “Molecular Medicine Reports” Targeting specific miRNAs may help treat hair follicle issues caused by hydrogen peroxide.
15 citations
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May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
36 citations
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January 2019 in “Nature communications” High lactate dehydrogenase activity is not necessary for the growth of squamous cell carcinoma.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Increased energy use in Pik3r1-related insulin resistance isn't due to Ucp1 thermogenesis.
11 citations
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February 2016 in “Current Medicinal Chemistry” New treatments for prostate cancer and BPH show promise, including novel compounds that target hormone synthesis and response.
1308 citations
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March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
1 citations
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May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
February 2026 in “Pediatric Dermatology” 33 citations
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August 1993 in “FEBS Letters” A new enzyme in rats may help regulate hair growth.