15 citations
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August 2021 in “Reviews in endocrine and metabolic disorders” COVID-19 and hypopituitarism (reduced pituitary gland function) are linked, with the latter's related health issues potentially worsening COVID-19 outcomes, and COVID-19 possibly increasing risk for pituitary complications.
9 citations
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April 2016 in “Cutaneous and ocular toxicology” Alpha Lipoic Acid helps protect skin from smoking damage.
January 2023 in “Åbo Akademi University Research Portal” Vimentin is crucial for wound healing, cell growth, and managing immune responses.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
UBC13 and UBC22 enzymes are important for plant growth and development in Arabidopsis thaliana.
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
4 citations
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February 2021 in “Plant journal” OsUEV1B protein is essential for controlling phosphate levels in rice.
30 citations
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October 2014 in “PLOS ONE” BAF200 is essential for proper heart and coronary artery formation.
33 citations
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February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
26 citations
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
July 2012 in “European journal of cancer” MPA increases cancer spread by boosting Eph A2 activity.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
September 2017 in “Journal of Investigative Dermatology” Finasteride helps female-pattern hair loss.
147 citations
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August 2005 in “The Plant Cell” The TIP1 gene is crucial for normal plant cell growth in Arabidopsis.
9 citations
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August 2021 in “Biomedicines” 17β-estradiol boosts APE1/Ref-1 secretion in cells and mice via a calcium-dependent pathway.
September 2023 in “Journal of the American Academy of Dermatology” BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.
26 citations
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June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
3 citations
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August 2021 in “Research Square (Research Square)” The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
184 citations
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September 2006 in “PLoS Genetics” The Apc gene is crucial for normal skin and thymus development.
Defective protein folding due to a mutation is key in ANE syndrome.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
1 citations
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March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” NAC1 controls certain enzymes that reduce root hair growth in Arabidopsis.
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.
51 citations
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January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
12 citations
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September 2021 in “PLoS ONE” WNT10A and EBF1 interaction affects hair growth in male-pattern baldness.
12 citations
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February 2021 in “Translational Psychiatry” Researchers found two new genetic variants linked to Alzheimer's disease.
12 citations
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December 2020 in “Archives animal breeding/Archiv für Tierzucht” EDA and EDAR are important for hair follicle development in cashmere goats and affect other related genes.
February 2024 in “Frontiers in plant science” Peps help Arabidopsis plants grow more root hairs by affecting specific genes and calcium signaling.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.