5 citations
,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
September 2023 in “Journal of the American Academy of Dermatology” CTP-543 is generally safe for treating alopecia areata.
36 citations
,
March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
January 2003 in “Hepatology” 5 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
10 citations
,
November 2020 in “American Journal Of Pathology” Integrin β1 is crucial for liver structure and function, preventing fibrosis.
August 2012 in “Nature Cell Biology” The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” MEF2C is crucial for normal hair cycle progression.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
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.
1 citations
,
September 2024 in “Animals” Specific gene variants affect wool traits in Chinese Tan sheep.
1 citations
,
December 2019 in “Acta Medica Medianae” Connubial contact dermatitis is often missed, making treatment harder.
September 2016 in “Journal of dermatological science” TSC2 is crucial for proper hair follicle development and patterning.
2 citations
,
May 2024 in “BMC Genomics” Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
4 citations
,
July 2012 in “Genesis” The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
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.
27 citations
,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
4 citations
,
October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
43 citations
,
November 2019 in “PLoS ONE” MED23 and GNAQ genes are crucial for chicken feather color.
140 citations
,
October 2008 in “Nature Genetics”
13 citations
,
January 2021 in “Scientific Reports” Pannexin 3 helps skin and hair growth by controlling a protein called Epiprofin.
December 2017 in “bioRxiv (Cold Spring Harbor Laboratory)” Endoglin is important for proper hair growth cycles and stem cell activation in hair follicles.
13 citations
,
June 2006 in “Fertility and Sterility” Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
6 citations
,
December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
75 citations
,
September 2016 in “EMBO journal” PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
4 citations
,
July 2024 in “Animals” The KRTAP19-5 gene affects wool curvature in Chinese Tan sheep, with Variant B reducing curvature.
130 citations
,
March 2014 in “Proceedings of the National Academy of Sciences of the United States of America” Epidermal Wnt/β-catenin signaling controls fat cell formation and hair growth.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
3 citations
,
August 2022 in “International Journal of Molecular Sciences” TSC2-/meth cells can cause skin lesions, hair growth, and lung issues, and may be treated with chromatin remodeling agents.