1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
4 citations
,
July 2024 in “Animals” The KRTAP19-5 gene affects wool curvature in Chinese Tan sheep, with Variant B reducing curvature.
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.
38 citations
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September 2021 in “Signal Transduction and Targeted Therapy” Genetic differences affect COVID-19 severity and treatment development.
23 citations
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December 2017 in “Scientific Reports” ARL15 is important for fat cell development and the release of the hormone adiponectin.
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
13 citations
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October 2024 in “Scientific Reports” Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.
13 citations
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December 2020 in “PLoS ONE” Genetic factors influence growth and brain development in children.
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.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
June 2024 in “Research Square (Research Square)” Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
195 citations
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June 2005 in “American Journal of Human Genetics” Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
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.
30 citations
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March 2019 in “Archives animal breeding/Archiv für Tierzucht” The KRTAP15-1 gene affects cashmere fiber thickness in goats.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
258 citations
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July 2016 in “Reproductive Biology and Endocrinology” The document concludes that insulin resistance is key in PCOS development and early treatment is crucial to prevent complications.
4 citations
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April 2021 in “Experimental and Molecular Medicine” The conclusion is that certain genetic factors and blood types may affect COVID-19 severity, but changes in ACE2 and TMPRSS2 genes are not clearly linked to it.
2 citations
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January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
92 citations
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December 2016 in “Scientific Reports” Researchers identified genes linked to coat color, body size, cashmere production, and high altitude adaptation in goats.
50 citations
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May 2019 in “Drugs” Cannabinoids may help treat chronic and chemotherapy-induced neuropathic pain, but more research is needed to confirm their effectiveness and safety.
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.
30 citations
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June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
10 citations
,
September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
8 citations
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December 2020 in “Scientific reports” Selective breeding caused the unique curly hair in Mangalitza pigs.
3 citations
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September 2019 in “PLOS ONE” Genetic variations affect dutasteride treatment response for male pattern hair loss.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
January 2024 in “Wiadomości Lekarskie” A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.