36 citations
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March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
Lhx2 helps retinal cells respond to signals for eye development.
5 citations
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November 2022 in “Genetics selection evolution” Low-coverage sequencing is a cost-effective way to find genetic factors affecting rabbit wool traits.
1 citations
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July 2023 in “Nature communications” MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
191 citations
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November 2007 in “Journal of Biological Chemistry” Very-long-chain acyl-CoA synthetases and fatty acid transport proteins play key roles in fatty acid metabolism and lipid processing in different tissues.
17 citations
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April 2023 in “Aging” CNGA3, GLUD1, and SIRT1 are promising targets for treating aging and glioblastoma.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
January 2025 in “Genetics in Medicine Open” A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.
113 citations
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June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
April 2025 in “Journal of Diabetes & Metabolic Disorders” Monitoring TGF-β and linc-PINT expression may help identify and treat high-risk heart arrhythmia patients.
1 citations
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June 2015 in “Journal of anatomy” A compound named ZCZ90 can increase muscle spindle firing, potentially helping treat muscle spasms and hypertension.
180 citations
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February 2023 in “Journal of Chemical Information and Modeling” Chemistry42 effectively creates and optimizes new molecules for drug discovery.
1 citations
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May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
4 citations
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December 2024 in “European Journal of Medicinal Chemistry” New pyrazole-based inhibitors show promise for treating metabolic diseases and other conditions.
IVL-DrugFluidic® can mass-produce high-quality, long-acting injectable drug microspheres, improving patient compliance and reducing side effects.
2 citations
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August 2024 in “Molecular Genetics & Genomic Medicine” Biotin mega-dose therapy led to dramatic improvement in a newborn with a rare metabolic disorder.
23 citations
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December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
January 2009 in “Xumu shouyi xuebao” Sheep cells were successfully modified to include a spider silk protein gene.
6 citations
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June 2012 in “PloS one” A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
6 citations
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March 2007 in “BioTechniques” PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
36 citations
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July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
11 citations
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July 2015 in “Journal of Anatomy” SLVs help maintain muscle stretch sensitivity and could aid in treating hypertension and muscle spasticity.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
Newly designed proteins can effectively degrade specific proteins in cells, offering a potential new therapy method.
April 2023 in “Research Square (Research Square)” A specific RNA helps increase the growth of skin cells in Liaoning cashmere goats by working with a protein to boost a growth-related gene.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.