47 citations
,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
September 2021 in “Physiology News” The document could not be read or understood.
1 citations
,
September 2024 in “Journal of the American Academy of Dermatology” November 2006 in “評価・診断に関するシンポジウム講演論文集” KSR1 is crucial for certain skin tumor formation and could be a cancer therapy target.
March 1997 in “Hair transplant forum international” The document's content couldn't be understood or processed.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
130 citations
,
January 2000 in “Nature biotechnology” June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
15 citations
,
January 2010 in “Reproduction, Fertility and Development” A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
May 1996 in “Hair transplant forum international” The document cannot be processed or understood.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
9 citations
,
February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
63 citations
,
May 2011 in “Clinical cancer research” The topical inhibitor CUR61414 was not effective in treating basal cell carcinoma in human trials.
15 citations
,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
2 citations
,
May 2024 in “BMC Genomics” Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
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.
January 2007 in “Journal of Southwest University” The ND1 gene of the Asian black bear Sichuan subspecies is similar to other bear species.
June 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Researchers found a specific T cell receptor linked to severe drug reactions like Stevens-Johnson syndrome when patients take carbamazepine.
12 citations
,
August 2019 in “BMC Medical Genetics” Certain MC4R gene variants are linked to higher BMI in obese women with PCOS but do not cause PCOS.
4 citations
,
November 1996 in “Hair transplant forum international” The document could not be processed for a summary.
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.
February 2013 in “Journal of Visualized Experiments” The document's conclusion cannot be provided because the document is not available for analysis.
1 citations
,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
9 citations
,
March 2009 in “Psychoneuroendocrinology” Certain gene variations are linked to better memory in healthy Chinese women.
September 2017 in “Hair transplant forum international” The document's content couldn't be read or understood.
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.
February 2007 in “Journal of Clinical Dermatology”
November 2006 in “Hair transplant forum international” The document's content couldn't be processed.