6 citations
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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.
123 citations
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May 2020 in “Drug Development Research” Men's sensitivity to male hormones might affect how severe COVID-19 gets for them.
42 citations
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May 2013 in “Oral Diseases” Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
9 citations
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October 2017 in “Archivos Argentinos de Pediatria” Alopecia areata needs new treatments targeting autoimmune processes due to its emotional impact and variable treatment responses.
14 citations
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July 2001 in “American Journal of Human Genetics” Haplogroup X found in Altaian population supports Amerindian origin.
103 citations
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October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
43 citations
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February 2013 in “Developmental dynamics” Foxi3 expression in developing teeth and hair is controlled by the ectodysplasin pathway.
28 citations
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August 2003 in “Steroids” Hirsute women have lower type 2 17β-HSD enzyme levels, which improve with treatment.
24 citations
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January 2021 in “Physiological Research” Testosterone affects brain functions and contributes to sex differences, influencing conditions like autism.
24 citations
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March 2011 in “British Journal of Dermatology” Men with hair loss have more DNA changes in back-of-head hair follicles, possibly protecting them from thinning.
6 citations
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November 2017 in “Scientific reports” The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
2 citations
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December 2019 in “Journal of The European Academy of Dermatology and Venereology” Differences in gene expression and methylation patterns found in AGA patients suggest potential targets for future treatments.
January 2025 in “Journal of Medical Biochemistry” Superoxide dismutases help balance cell stress and may aid cancer treatment.
October 2022 in “Endocrine journal” Testosterone and dihydrotestosterone treatments can help with penile growth in males with 5α-reductase type 2 deficiency, with dihydrotestosterone being more effective in infancy.
July 2021 in “Scholars Journal of Medical Case Reports” Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
52 citations
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October 1999 in “Developmental Dynamics” Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
42 citations
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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.
20 citations
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May 2007 in “Asian-Australasian Journal of Animal Sciences” KAP8.2 gene variations affect cashmere quality in goats.
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
2 citations
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July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
48 citations
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January 2011 in “Hormone Research in Paediatrics” The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
1 citations
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January 2008 in “touchREVIEWS in Endocrinology” Generalized glucocorticoid resistance causes hormone imbalances and varied symptoms due to gene mutations.
191 citations
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September 2011 in “Cell stem cell” Hair follicle stem cells use specific chromatin changes to control their growth and differentiation.
173 citations
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January 2014 in “Nature Cell Biology” Wnt signaling controls whether hair follicle stem cells stay inactive or regenerate hair.
124 citations
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July 2012 in “Archives of Dermatological Research” Targeting androgen receptors could be a promising way to treat skin disorders with fewer side effects.
93 citations
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April 2003 in “Proceedings of the National Academy of Sciences of the United States of America” Fatty acid transport protein 4 is essential for skin and hair development.
73 citations
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June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
50 citations
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September 2014 in “Stem cell reports” BLIMP1 is essential for skin maintenance but not for defining sebaceous gland progenitors.
38 citations
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January 2014 in “International Journal of Endocrinology” Adrenal disorders can cause lasting brain and behavior issues in children.
32 citations
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February 2008 in “Developmental dynamics” Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.