CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.
1 citations
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August 2025 in “Epigenetics & Chromatin” H3K4me3 helps control RSPO3 to influence hair growth and development.
2 citations
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July 2024 in “International Journal of Molecular Sciences” Csdc2 helps hair growth in cashmere goats by regulating specific genes.
46 citations
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August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
2 citations
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December 2021 The research found that the properties of solid-state Electronic Circular Dichroism (ss-ECD) are influenced by the orientation of local crystals, which could help in examining and mapping chiral materials like pharmaceutical ingredients.
21 citations
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January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
7 citations
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June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
July 2025 in “Journal of Investigative Dermatology” 62 citations
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January 2009 in “Biochemistry” Vitamin D receptor binds similarly to natural and synthetic ligands, affecting gene regulation.
January 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” Armadillo Repeat Only proteins are essential for proper plant growth and response by regulating calcium channels.
107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
29 citations
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June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
6 citations
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October 2012 in “Journal of Heredity” The Itpr3 gene causes a specific hair pattern in mice.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
41 citations
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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.
11 citations
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August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
November 2025 in “Journal of Investigative Dermatology” Certain immune cells in atopic dermatitis skin could be targeted for treatment.
67 citations
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August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
75 citations
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September 2016 in “EMBO journal” PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
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.
30 citations
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July 2019 in “Endocrinology” Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.
9 citations
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October 2017 in “Frontiers in plant science” The peach gene CTG134 helps control the interaction between auxin and ethylene, which could lead to new agricultural chemicals.
9 citations
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September 2013 in “Journal of Applied Animal Research” The genetic variation in the KAP13-3 gene may affect cashmere fiber traits in Liaoning goats.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
232 citations
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January 2002 in “Mechanisms of development” Different enzymes are active in different parts of developing mouse organs.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
May 2017 in “bioRxiv (Cold Spring Harbor Laboratory)” The peach gene pCTG134 helps control the interaction between auxin and ethylene hormones during fruit ripening.
81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.