Results 11 to 20 of about 1,224,383 (281)

Association of the leptin receptor Q223R (rs1137101) polymorphism with obesity measures in Sri Lankans [PDF]

, 2020
OBJECTIVE: The role of genetic factors in the development of obesity is largely unreported in Sri Lankans. The Q223R (rs1137101) single nucleotide polymorphism (SNP) of the leptin receptor (LEPR) gene has been associated with obesity measures in various ...
Dalton, C.F., Fernando, D.J., Illangasekera, Y.A., Kumarasiri, P.V.R.   +3 more
core   +1 more source

Two subtypes of cutaneous melanoma with distinct mutational signatures and clinico-genomic characteristics

Frontiers in Genetics, 2022
Background: To decipher mutational signatures and their associations with biological implications in cutaneous melanomas (CMs), including those with a low ultraviolet (UV) signature.Materials and Methods: We applied non-negative matrix factorization (NMF)
Yoon-Seob Kim, Yoon-Seob Kim, Yoon-Seob Kim, Minho Lee, Yeun-Jun Chung, Yeun-Jun Chung, Yeun-Jun Chung, Yeun-Jun Chung   +7 more
doaj   +1 more source

A Variant in Is Associated with the Risk of Ankylosing Spondylitis in Koreans [PDF]

Genomics & Informatics, 2017
Ankylosing spondylitis (AS) is a chronic autoinflammatory disease that affects the spine and sacroiliac joints. Regarding its etiology, although HLA-B27 is known to be the strongest genetic factor of AS, much evidence suggests the potential contribution ...
Sung-Min Cho, Seung-Hyun Jung, Yeun-Jun Chung   +2 more
doaj   +1 more source

Validation of Customized Cancer Panel for Detecting Somatic Mutations and Copy Number Alterations [PDF]

Genomics & Informatics, 2017
Accurate detection of genomic alterations, especially druggable hotspot mutations in tumors, has become an essential part of precision medicine.
Su-Hye Choi, Seung-Hyun Jung, Yeun-Jun Chung   +2 more
doaj   +1 more source

Genetic polymorphisms associated with sepsis incidence, severity, and outcomes among neonates: A mini-review

Journal of Advanced Pharmaceutical Technology & Research, 2023
Genetic variation remains a topic of great interest due to its potential as a risk factor for various diseases. Interactions between genes contribute to diverse phenotypes in response to factors such as infection.
Darnifayanti Darnifayanti, Muslim Akmal, Syahrun Nur, Sulaiman Yusuf   +3 more
doaj   +1 more source

A critique of avian CHD-based molecular sexing protocols illustrated by a Z-chromosome polymorphism detected in auklets [PDF]

, 2001
The sexes of non-ratite birds can be determined routinely by PCR amplification of the CHD-Z and CHD-W genes. CHD -based molecular sexing of four species of auklets revealed the presence of a polymorphism in the Z chromosome.
Burke, T., Darby, S., Dawson, D.A., Hunter, F.M., Jones, I.L., Krupa, A.P.   +5 more
core   +1 more source

Strong Association between Vitamin D Receptor Gene and Severe Acute Respiratory Syndrome coronavirus 2 Infectious Variants

Global Medical Genetics, 2023
A coronavirus disease 2019 (COVID-19) disease, caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has created significant concern since December 2019 worldwide. The virus is known to be highly transmissible.
Begimai Mamurova, Gokce Akan, Evren Mogol, Ayla Turgay, Gulten Tuncel, Emine Unal Evren, Hakan Evren, Kaya Suer, Tamer Sanlidag, Mahmut Cerkez Ergoren   +9 more
doaj   +1 more source

Restriction Fragment Length Polymorphism Linkage Map for Arabidopsis thaliana [PDF]

, 1988
We have constructed a restriction fragment length polymorphism linkage map for the nuclear genome of the flowering plant Arabidopsis thaliana. The map, containing 90 randomly distributed molecular markers, is physically very dense; >50% of the genome is ...
Bowman, John L., Chang, Caren, DeJohn, Arthur W., Lander, Eric S., Meyerowitz, Elliot M.   +4 more
core   +1 more source

Pathogenic NF1 truncating mutation and copy number alterations in a dedifferentiated liposarcoma with multiple lung metastasis: a case report

BMC Medical Genetics, 2020
Background Dedifferentiated liposarcoma (DDLPS), which accounts for an estimated 15–20% of liposarcomas, is a high-grade and aggressive malignant neoplasm, exhibiting a poor response to available therapeutic agents.
Yoon-Seob Kim, Sun Shin, Seung-Hyun Jung, Yeun-Jun Chung   +3 more
doaj   +1 more source

The Contribution of Tissue Inhibitor of Metalloproteinase-2 Genotypes to Breast Cancer Risk in Taiwan

Life, 2023
Tissue inhibitor of metalloproteinase-2 (TIMP-2) is an endogenous inhibitor of matrix metalloproteinase-2 and is highly expressed in breast cancer (BC) cases at diagnosis.
Yun-Chi Wang, Jie-Long He, Chung-Lin Tsai, Huey-En Tzeng, Wen-Shin Chang, Shih-Han Pan, Li-Hsiou Chen, Chen-Hsien Su, Jiunn-Cherng Lin, Chih-Chiang Hung, Da-Tian Bau, Chia-Wen Tsai   +11 more
doaj   +1 more source