December 2025 in “FEBS Open Bio” Long-term skin biopsy cultures can produce many fibroblasts that remain functional and can be reprogrammed.
January 2025 in “Cell Communication and Signaling” CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
March 2024 in “Journal of Animal Reproduciton and Biotechnology” A rare fetal malformation caused difficult birth in a goat, requiring surgery.
January 2024 in “Frontiers research topics” Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
136 citations
,
April 2010 in “British Journal of Dermatology” Acitretin is effective for severe skin conditions but has significant side effects and requires careful monitoring.
107 citations
,
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.
9 citations
,
August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
3 citations
,
April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
380 citations
,
February 2023 in “Journal of Clinical Medicine” PCOS is influenced by various factors and may be managed by restoring gut health and using new therapies.
222 citations
,
August 2014 in “Cell Metabolism” Mitochondrial Complex I reduces inflammation and increases bone breakdown by affecting certain immune cells.
138 citations
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June 2023 in “Molecules” Skin pigmentation varies due to genetics, UV exposure, and drugs, with treatments available but requiring medical advice.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
55 citations
,
August 2024 in “Heliyon” Stem cell transplantation shows promise for treating diseases but faces challenges like safety, ethics, and cost.
55 citations
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August 2003 in “Ultrasound in Obstetrics and Gynecology” Ultrasound and color Doppler can help diagnose and decide treatment for early puberty in young girls.
44 citations
,
September 2020 in “International Journal of Molecular Sciences” New treatments are needed for PCOS that target its genetic, hormonal, and metabolic causes.
44 citations
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April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
40 citations
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November 2019 in “Frontiers in Endocrinology” Metabolic Syndrome is linked to several skin conditions, and stem cell therapy might help treat them.
37 citations
,
January 2010 in “Journal of Clinical Investigation” N-WASP is essential for normal hair growth in mice.
36 citations
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October 2021 in “Frontiers in Endocrinology” Insulin resistance and high male hormone levels are major causes of Polycystic Ovary Syndrome.
27 citations
,
May 2019 in “Jo'jig gonghag gwa jaesaeng uihag/Tissue engineering and regenerative medicine” The best method for urethral reconstruction is using hypoxia-preconditioned stem cells with autologous cells on a vascularized synthetic scaffold.
26 citations
,
August 2008 in “Clinical endocrinology” The document concludes that more multidisciplinary research is needed to understand and treat PCOS, a condition that significantly affects women's health and quality of life.
24 citations
,
March 2016 in “Journal of Investigative Dermatology” TIP39 and PTH2R help control calcium levels and skin cell development.
23 citations
,
October 2009 in “Gastroenterology” Vitamin D is crucial for bone health and preventing serious diseases.
18 citations
,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
15 citations
,
March 2015 in “PloS one” Scientists restored fertility in male mice lacking a key fertility gene by using a modified gene.
15 citations
,
May 2014 in “Journal of Biological Chemistry” A chimeric keratin partially improved skin structure in mice lacking keratin 5, but didn't fully restore normal skin.
12 citations
,
July 2020 in “Aging” The protein EZH2 blocks microRNA-22, increasing STK40 protein, which helps hair follicle stem cells change and grow hair.
8 citations
,
January 2018 in “Science of the total environment” Australian fur seals' fur shows high levels of pollutants, which may be linked to hair loss in young female seals.
6 citations
,
January 2015 in “Journal of regenerative medicine & tissue engineering” The review concludes that innovations in regenerative medicine, tissue engineering, and developmental biology are essential for effective tissue repair and organ transplants.