8 citations
,
December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
28 citations
,
March 2010 in “British Journal of Dermatology” Genetic marker rs12558842 strongly linked to male hair loss.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
57 citations
,
August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
37 citations
,
October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
2 citations
,
October 2023 in “PubMed” Scientists created a cell model to study and find treatments for a skin disease called RDEB.
5 citations
,
July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
12 citations
,
September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
10 citations
,
September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
3 citations
,
September 2022 in “European Journal of Dermatology” Gene sequencing is crucial for diagnosing Junctional epidermolysis bullosa.
1 citations
,
September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
February 2009 in “Journal of The American Academy of Dermatology” The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
7 citations
,
August 2021 in “Open Access Macedonian Journal of Medical Sciences” The VDR gene polymorphism does not affect BDNF levels in autoimmune thyroiditis and hypothyroidism patients.
12 citations
,
January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
13 citations
,
September 2007 in “International Journal of Dermatology” Vitamin D receptor gene variations are not linked to alopecia areata.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
2 citations
,
May 2006 in “Archives of Pathology & Laboratory Medicine” Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
1 citations
,
July 2020 in “The Egyptian Journal of Hospital Medicine” The MDR1 C3435T polymorphism does not significantly affect methotrexate response in rheumatoid arthritis patients.
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.
3 citations
,
September 2019 in “PLOS ONE” Genetic variations affect dutasteride treatment response for male pattern hair loss.
60 citations
,
March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
46 citations
,
August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
August 2015 in “International Journal of Genetics and Molecular Biology” Certain genetic markers may increase or decrease prostate cancer risk.
4 citations
,
October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
8 citations
,
March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
3 citations
,
April 2015 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Certain genetic markers on the Y-chromosome may influence prostate cancer risk in Iraqi males.
51 citations
,
December 2006 in “Mammalian Genome”