65 citations,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
2 citations,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
12 citations,
February 2021 in “Translational Psychiatry” Researchers found two new genetic variants linked to Alzheimer's disease.
5 citations,
August 2019 in “iScience” Deleting the Trf1 protein in mice is safe and may help prevent cancer without major side effects.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
18 citations,
January 2013 in “PLoS ONE” HLA-DRB5 and other genes may be linked to alopecia universalis.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
26 citations,
March 2012 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
18 citations,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
2 citations,
July 2022 in “Journal of the Endocrine Society” Some women with PCOS have rare genetic variants linked to the condition.
9 citations,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
April 2023 in “Medizinische Genetik” New research has found 14 genes linked to the risk of developing alopecia areata, improving understanding and treatment options.
March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
15 citations,
July 2017 in “Hormones” Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
15 citations,
April 2016 in “Hormones” Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
February 2023 in “Research Square (Research Square)” Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
14 citations,
September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
3 citations,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
95 citations,
February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
118 citations,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
64 citations,
August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
7 citations,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
3 citations,
May 2019 in “BMJ case reports” A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
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.
September 2019 in “Journal of Investigative Dermatology” People with pattern hair loss have higher polyamine levels in the top of their head compared to the back.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
September 2019 in “Journal of Investigative Dermatology” Specialized ribosomes affect aging in human skin cells.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
359 citations,
September 2017 in “European Journal of Epidemiology” The Rotterdam Study updated findings on elderly health, focusing on heart disease, genetics, lifestyle effects, and disease understanding.