26 citations
,
June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
2 citations
,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
November 2023 in “Scientific Reports” A gene mutation in Lama3 is linked to a common type of hair loss.
4 citations
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April 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” The improved genome of the African spiny mouse helps study its tissue regeneration.
April 2019 in “Journal of Investigative Dermatology” Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
1 citations
,
May 2023 in “Frontiers in Pharmacology” Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
4 citations
,
December 2016 in “Blood” A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
6 citations
,
April 2014 in “European journal of medicinal chemistry” New compounds similar to cromakalim were less effective at inhibiting insulin release but improved in solubility and one acted as a calcium entry blocker, not a potassium channel opener.
January 2024 in “Biomarker Insights” Certain genetic variants may increase the risk of developing PCOS.
8 citations
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January 2013 in “genesis” Zfp157 is active in many mouse tissues during development and in specific adult cells.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
August 2004 in “Journal of the American College of Surgeons” Several genes, including Hox-7A, Stra6, and Lim-1, are involved in normal palate formation.
3 citations
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December 2024 in “Journal of Animal Science” LncRNA MSTRG.14227.1 hinders hair follicle development in cashmere goats, affecting cashmere quality.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
2 citations
,
December 2019 in “Al-ʻulūm al-ṣaydalāniyyaẗ” The CTLA-4 gene change studied does not affect Polycystic Ovarian Syndrome in the women tested.
May 2022 in “The journal of immunology/The Journal of immunology” FOXN1 is crucial for thymus development and immune response in Xenopus laevis.
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
Lysine carboxymethyl cysteinate (LCC) protects skin from UVB damage by activating autophagy.
1 citations
,
May 2025 in “Cell Reports Medicine” RSPO1 could help create new diabetes treatments by increasing pancreatic β cells.
27 citations
,
February 2020 in “EMBO Reports” MEX3A is crucial for maintaining intestinal stem cells in mice.
28 citations
,
May 2020 in “BMC plant biology” The study concluded that three enzymes are important for plant development by affecting sugar composition and calcium binding in plants.
39 citations
,
July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
August 2020 in “OPAL (Open@LaTrobe) (La Trobe University)” April 2026 in “Apollo (University of Cambridge)” November 2016 in “The Molecular Biology Society of Japan”
14 citations
,
February 2017 in “Scientific Reports” Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.
3 citations
,
September 2015 in “Journal of Vascular Surgery” Chemical lumbar sympathectomy is an effective and safe treatment for idiopathic livedo reticularis.
48 citations
,
June 2014 in “Neurobiology of Disease” The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
8 citations
,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
2 citations
,
January 2025 in “touchREVIEWS in Endocrinology” SGLT2 inhibitors may help manage PCOS symptoms effectively.