Results 31 to 40 of about 674,439 (312)

Association of FcγRIIa R131H polymorphism with idiopathic pulmonary fibrosis severity and progression [PDF]

, 2010
Background A significant genetic component has been described for idiopathic pulmonary fibrosis (IPF). The R131H (rs1801274) polymorphism of the IgG receptor FcγRIIa determines receptor affinity for IgG subclasses and is associated with several chronic ...
Hart Simon P, Wallace, William A., McFarlane, Pauline, Bournazos, Stylianos, Bournazos Stylianos, Alexander, Karen M, Karen M Alexander, Jacob Grinfeld, William A Wallace, Simpson A John, Hirani, Nikhil, McFarlane Pauline, Pauline McFarlane, Grinfeld Jacob, Grinfeld, Jacob, Hirani Nikhil, Simpson, A John, John T Murchison, Nikhil Hirani, Wallace William A, Hart, Simon P, Simpson, A. John, Dransfield, Ian, Stylianos Bournazos, Murchison John T, Alexander Karen M, Murchison, John T, Wallace, William, Ian Dransfield, Dransfield Ian, A John Simpson, Simon P Hart   +31 more
core   +2 more sources

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

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

Angiotensin-converting enzyme I/D polymorphism and preeclampsia risk: Evidence of small-study bias [PDF]

, 2006
Background Inappropriate activation of the renin-angiotensin system may play a part in the development of preeclampsia. An insertion/deletion polymorphism within the angiotensin-I converting enzyme gene (ACE-I/D) has shown to be reliably associated with ...
Casas Juan P, Luis A Díaz, Páez, Maria C, Mesa, Clara M, Aroon D Hingorani, Rodrigo Cifuentes, Hingorani, AD, Gonzalez, A, Serrano Norma C, Serrano, Norma C, Monterrosa Alvaro, González, Adriana, Diaz, LA, Serrano, NC, Norma C Serrano, Smeeth, L, Mesa, CM, Monterrosa, Alvaro, Páez Maria C, Cifuentes, Rodrigo, Juan P Casas, Hingorani Aroon D, Díaz Luis A, Smeeth Liam, Mesa Clara M, Casas, Juan P, Adriana González, Díaz, Luis A, Liam Smeeth, González Adriana, Paez, MC, Cifuentes, R, Smeeth, Liam, Casas, JP, Alvaro Monterrosa, Hingorani, Aroon D, Maria C Páez, Cifuentes Rodrigo, Monterrosa, A, Clara M Mesa   +39 more
core   +1 more source

The rs1990760 polymorphism within the IFIH 1 locus is not associated with Graves' disease, Hashimoto's thyroiditis and Addison's disease [PDF]

, 2009
Background: Three genes have been confirmed as major joint susceptibility genes for endocrine autoimmune disease:human leukocyte antigen class II, cytotoxic T-lymphocyte antigen 4 and protein tyrosine phosphatase non-receptor type 22.
Reisch, Nicole, Badenhoop Klaus, Elizabeth Ramos Lopez, Stefanie Hahner, H. Willemberg, Segni, Maria, Kahles Heinrich, Inka Robbers, Ramos-Lopez, Elizabeth, Hahner, Stefanie, Heinrich Kahles, Willenberg, Holger, Robbers Inka, Seidl, Christian, Marissa Penna Martinez, Christian Seidl, Willenberg, Holger S., Reisch Nicole, Kahles, Heinrich, Penna-Martinez Marissa, Klaus Badenhoop, Penna Martinez, Marissa, Seidl Christian, Badenhoop, Klaus, Robbers, Inka, Penna-Martinez, Marissa, Ramos-Lopez Elizabeth, Hahner Stefanie, Segni Maria, Willenberg Holger, Nicole Reisch   +30 more
core   +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

Polymorphous Adenocarcinoma

Surgical Pathology Clinics, 2021
Polymorphous adenocarcinoma (PAC) is typically originated from the minor salivary glands and is characterized by cytology uniformity and architectural diversity. PAC commonly harbors PRKD1 E710D mutation. PAC has an excellent prognosis. However, greater than or equal to 10% papillary or greater than or equal to 30% cribriform pattern is an independent ...
Nora, Katabi, Bin, Xu
openaire   +3 more sources

Impulsive traits and 5-HT2A receptor promoter polymorphism in alcohol dependents: Possible association but no influence of personality disorders [PDF]

, 2001
Objective: Impulsive behavior in alcoholics puts them at serious risk of severer course of disease and has been related to the serotonergic neurotransmission dysfunction.
Bondy, Brigitta, Preuss, Ulrich W., Soyka, Michael, Bahlmann, Miriam, Koller, G.   +4 more
core   +1 more source

Polygenes and polymorphism

Molecular and General Genetics MGG, 1967
Uploaded by Plazi for TaxoDros. We do not have abstracts.
P A, Parsons, S M, Hosgood, B T, Lee
openaire   +3 more sources

Glu298Asp endothelial nitric oxide synthase gene polymorphism interacts with environmental and dietary factors to influence endothelial function [PDF]

, 2002
An endothelial nitric oxide synthase (eNOS) gene polymorphism (Glu298Asp) has been associated with cardiovascular disease. We investigated whether carriage of the polymorphism was associated with functional changes in the endothelium, and how genotype ...
Jeerooburkhan, N., Muller, D.P.R., Mullen, M.J., Deanfield, J.E., Muller, DP, Deanfield, JE, Humphries, SE, Kattenhorn, M., Cole, T.J., Lucas, A, Humphries, S.E., Leeson, Christopher, Kattenhorn, M, Hingorani, AD, Jeerooburkhan, N, Hingorani, S.D., Leeson, CP, Mullen, MJ, Leeson, C.P.M., Cole, TJ, Lucas, A.   +20 more
core   +1 more source