7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
4 citations
,
March 2024 in “Forensic Sciences Research” Forensic DNA phenotyping faces challenges like inconsistent terms and limited genetic knowledge.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
12 citations
,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
2 citations
,
March 2023 in “Research Square (Research Square)” Forensic DNA phenotyping faces challenges due to inconsistent terminology, limited genetic understanding, and debates over technology and models.
6 citations
,
January 2020 in “Czech Journal of Animal Science” The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.
1 citations
,
May 2023 in “Frontiers in Pharmacology” Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
1 citations
,
September 2024 in “Animals” Specific gene variants affect wool traits in Chinese Tan sheep.
28 citations
,
June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
2 citations
,
July 2021 in “UNC Libraries” Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
1 citations
,
September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
July 2025 in “International Journal of Molecular Sciences” Four new genes related to sheep wool were discovered, showing genetic diversity.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
54 citations
,
January 1995 in “Human Molecular Genetics” Monilethrix is linked to a gene cluster on chromosome 12.
10 citations
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September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
19 citations
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February 2013 in “Archives of Dermatological Research”
24 citations
,
November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
7 citations
,
August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
3 citations
,
August 2021 in “Research Square (Research Square)” The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
13 citations
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August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
120 citations
,
August 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Cytokeratin 19 and cytokeratin 15 are key markers for monitoring the quality and self-renewing potential of engineered skin.
July 2024 in “Journal of Investigative Dermatology” 55 citations
,
November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
37 citations
,
August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
9 citations
,
August 2013 in “PLOS ONE” Genetic variants at 20p11 increase baldness risk in Chinese Han people.
9 citations
,
October 2022 in “Nature Communications” The DiLiCre mouse model is an effective tool for precise genome editing using light.
4 citations
,
October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.