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.
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
,
June 2023 in “Molecules” Skin pigmentation varies due to genetics, UV exposure, and drugs, with treatments available but requiring medical advice.
112 citations
,
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
,
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
,
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
,
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.
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.
5 citations
,
January 2024 in “Reproductive Medicine and Biology” Androgen and Wnt signals are crucial for developing and functioning male genitalia and erectile tissues.
4 citations
,
August 2025 in “Journal of Ovarian Research” More research is needed to confirm if natural products effectively treat PCOS.
3 citations
,
July 2025 in “BMC Research Notes” Health coaching helps infertile women with PCOS improve their health and lifestyle.
3 citations
,
November 2024 in “Saudi Pharmaceutical Journal” Anabolic-androgenic steroids can harm women's health and their offspring.