August 2024 in “American Journal of Medical Genetics Part A” Trichohepatoneurodevelopmental syndrome (THNS) is an ultra-rare disorder characterized by liver dysfunction, hypotonia, developmental delay, coarse hair, and dysmorphic features. This report describes the fifth and sixth cases of THNS from Saudi Arabia, both presenting with these symptoms. Genetic analysis revealed pathogenic variants in the CCDC47 gene: a homozygous variant in Case 1 and two heterozygous variants in Case 2, confirmed to be in trans phase through parental testing. These findings contribute to a stronger gene-disease association and help clarify the clinical phenotype and mutational spectrum of THNS.
9 citations
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October 1947 in “The Lancet” 1 citations
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November 1947 in “The Lancet” 
11 citations
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July 2021 in “Physiologia Plantarum” SIPHL1 from tomato enhances plants' response to low phosphate levels.
April 2023 in “World Journal of Advanced Research and Reviews” Frequent blood transfusions in beta thalassemia can lead to thyroid problems.
24 citations
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March 2016 in “Journal of Investigative Dermatology” TIP39 and PTH2R help control calcium levels and skin cell development.
March 2022 in “Oncology Times” Tebentafusp-tebn improves survival rates in uveal melanoma patients but has common side effects like rash and fatigue.
35 citations
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September 2012 in “PloS one” Two distinct pathways direct proteins to vacuoles in Arabidopsis, affecting root hair growth and protein targeting.
33 citations
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May 2017 in “Journal of Clinical Oncology” ETC-159 was safe up to 30 mg, but no tumor shrinkage was seen.
10 citations
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March 2022 in “Frontiers in Oncology” HOTTIP and miR-10b contribute to glioma therapy resistance by affecting cell behavior, suggesting they could be targets for treatment.
7 citations
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October 2020 in “Wiener medizinische Wochenschrift” THA is a rare condition with no significant clinical consequences if thyroid function is normal.
37 citations
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November 2007 in “Journal of Biological Chemistry” Ku80 is a key receptor for Thymosin β4, affecting cell migration and wound healing.
August 2019 in “Journal of Invertebrate Pathology” Thymosin beta 4 protects cells from damage by blocking a harmful microRNA and boosting a protective gene.
1 citations
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May 2025 in “Natural Products and Bioprospecting” PEVIII is a promising treatment for Pseudomonas aeruginosa keratitis.
10 citations
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June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
44 citations
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March 1947 in “Endocrinology” Thiourea compounds affect hair growth and pigmentation in black rats.
New steroid derivatives show promise as anticancer agents, even against resistant cells.
1 citations
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July 2022 in “Pakistan biomedical journal” Transethosomes improve drug delivery through the skin by overcoming the outer skin layer's barrier.
28 citations
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September 2021 in “EMBO reports” Osthole inhibits the TRPV3 channel by binding to specific sites, potentially aiding drug development for skin diseases and cancers.
May 2017 in “Journal of The American Academy of Dermatology” An intact skin barrier is crucial to prevent infection in cases of tether-induced tenosynovitis.
April 2017 in “Journal of Investigative Dermatology” Triptolide effectively and safely reduces actinic keratosis lesions in mice.
July 2014 in “Americanae (AECID Library)” Tridax procumbens and Ouratea spectabilis can affect other plants' growth and have antioxidant benefits.
24 citations
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November 2015 in “Frontiers in Genetics” Nitroxide drugs can safely and effectively treat age-related diseases like macular degeneration and cardiovascular issues.
![Discovery of 7-Methoxy-6-[4-(4-Methyl-1,3-Thiazol-2-yl)-1H-Imidazol-5-yl]-1,3-Benzothiazole (TASP0382088): A Potent and Selective Transforming Growth Factor-β Type I Receptor Inhibitor as a Topical Drug for Alopecia](/images/research/9620bd26-3366-4f2a-bcac-f511697bbc41/small/35997.jpg)
6 citations
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January 2013 in “Chemical & pharmaceutical bulletin/Chemical and pharmaceutical bulletin” A new compound shows promise as a topical treatment for hair loss.
December 2009 in “생명과학회지” Thymosin β4 and VEGF are important for organ function and may help with blood vessel formation.
13 citations
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September 2014 in “BMC Complementary and Alternative Medicine” Tanshinone IIA helps protect skin tissue from low oxygen damage by boosting certain cell markers.
4 citations
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January 2023 in “Marine Drugs” Marine compounds from gorgonians and soft corals show promise for drug development, especially for chronic disorders.
December 2023 in “Journal of ethnopharmacology” Tribuloside can increase skin pigmentation by enhancing melanin production and distribution.
1 citations
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October 2022 in “Molecular therapy” The FDA approved the first gene therapy for a blood disorder after overcoming early challenges and demonstrating patient benefits.