September 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” FOL-026 peptide can help repair blood vessels and promote growth, offering potential treatment for vascular diseases.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
May 2010 in “Europe PMC (PubMed Central)” Near-infrared probes can safely and effectively image cysteine protease activity for disease diagnosis.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
1 citations
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October 2025 in “Micromachines” Portable point-of-care testing can improve quick and accurate genetic disorder detection.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
January 2026 in “SSRN Electronic Journal”
May 2023 in “Elsevier eBooks” The document's conclusion cannot be provided because the document is not readable or understandable.
6 citations
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March 1996 in “Journal of Investigative Dermatology”
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
July 2026 in “Journal of Enzyme Inhibition and Medicinal Chemistry” Improved CRBN ligands make protein degraders more effective and drug-like.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
February 2026 in “Biophysical Journal”
4 citations
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July 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” BLMP-1 is important for regular molting and gene expression cycles in worms.
14 citations
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July 2021 in “Bioinformatics” rPanglaoDB helps study rare cell types by merging RNA data, showing fibrocytes aid in healing.
September 2017 in “Journal of Investigative Dermatology” Finasteride helps female-pattern hair loss.
93 citations
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May 2010 in “European Journal of Cancer” BI 2536 had limited effectiveness against several advanced cancers and caused significant side effects.
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September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
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October 2009 in “Journal of Biomedical Nanotechnology” Pyrene excimer nucleic acid probes are promising for detecting biomolecules accurately with potential for biological research and drug screening.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
May 2005 in “Molecular Carcinogenesis” mrp/plf-mRNA can indicate tumor-promoting effects in skin.
April 2018 in “Journal of Investigative Dermatology” CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
42 citations
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February 1998 in “The Journal of Steroid Biochemistry and Molecular Biology” PNU 157706 is a more effective treatment than finasteride for conditions caused by DHT, like enlarged prostate and hair loss.
12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” The PP2A-B55α protein is essential for brain and skin development in embryos.
24 citations
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July 1994 in “Molecular Endocrinology” Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
May 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” rPanglaoDB helps study rare cell types by merging RNA data, confirming fibrocytes' role in healing.
475 citations
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October 2006 in “Proceedings of the National Academy of Sciences” Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
February 2026 in “Small Ruminant Research” The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.