2 citations
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July 2025 in “Scientific Reports” Acinetobacter strain A1-4-2 can safely clean water pollutants.
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December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
30 citations
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October 2014 in “PLOS ONE” BAF200 is essential for proper heart and coronary artery formation.
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
August 2025 in “Scientific Reports” C4BPA protein may link acne severity and insulin resistance.
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October 2024 in “Experimental Dermatology” Higher CRHR1 levels in AA patients lead to increased inflammation.
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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.
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.
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
4 citations
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August 2023 in “Biomedicine & Pharmacotherapy” Ivacaftor can protect against noise-induced hearing loss by reducing oxidative stress.
32 citations
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May 2023 in “Frontiers in Immunology” Understanding cellular interactions in VCA may lead to better treatments and reduce rejection.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
August 2015 in “Han'gug dongmul jawon gwahag hoeji/Han-guk dongmul jawon gwahak hoeji/Journal of animal science and technology” TRα and CRABPII genes change their activity levels during goat fetal skin development.
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October 2021 in “Turkish Journal Of Neurology” Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
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January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
VDAC2 promotes cell death in cashmere goat hair follicles through the P53 pathway.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
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July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
The vitamin D receptor has many roles in the body beyond managing calcium, affecting the immune system, hair growth, muscles, fat, bone marrow, and cancer cells.
2 citations
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December 2018 in “Journal of cosmetic dermatology” Higher CRBP1 levels are linked to more severe alopecia areata.
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
March 2024 in “Skin research and technology” High CRP levels could indicate vitamin D deficiency in people with alopecia areata.
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January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
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April 2016 in “Journal of experimental botany” RACB in barley is crucial for cell polarity and nucleus positioning, aiding fungal infection.
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February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
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August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
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January 1970 Precise objectives can improve student achievement in health education.
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January 2025 in “Frontiers in Oncology” REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.
August 2012 in “Nature Cell Biology” The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
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February 2021 in “Plant journal” OsUEV1B protein is essential for controlling phosphate levels in rice.