Results 21 to 30 of about 113,813 (285)

HETEROZYGOTES FOR ATYPICAL CHOLINESTERASE

British Journal of Anaesthesia, 1982
Three hundred and thirty-two patients undergoing electroconvulsive therapy received thiopentone and suxamethonium. In 31 the duration of the apnoea was greater than an assumed upper limit of normal of 240 s. Eight of these patients proved, on biochemical grounds, to be heterozygotes for the atypical gene. The reason why the heterozygous state is rarely
H, Owen, A R, Hunter
openaire   +2 more sources

Pleiotropic functions of the tumor- and metastasis-suppressing Matrix Metalloproteinase-8 in mammary cancer in MMTV-PyMT transgenic mice [PDF]

, 2015
Matrix metalloproteinase-8 (MMP-8; neutrophil collagenase) is an important regulator of innate immunity which has onco-suppressive actions in numerous tumor ...
A Dufour, A Gutierrez-Fernandez, A Gutiérrez-Fernández, A Krüger, AM Tester, Ana Gutiérrez-Fernández, B Fingleton, B Fingleton, C López-Otín, C Soria-Valles, CM Overall, CT Guy, D Agarwal, Dylan R Edwards, E Dejonckheere, EI Deryugina, EM Bekes, EY Lin, EY Lin, G Christoffersson, G Dew, H Nozawa, J Decock, J Decock, J Decock, J Decock, J Schindelin, J Wyckoff, JE Maglione, JP Väyrynen, JP Witty, JT Korpi, JT Korpi, Julie Decock, K Almholt, L Sevenich, LH Palavalli, LJ McCawley, M Balbin, M Egeblad, M Hernández, M Lin, M Zhu, MM Gueders, N Fortelny, N Xu, P Li, P Lint Van, S Tazzyman, S Thirkettle, Sally Thirkettle, Stephen D Robinson, T Pellinen, T-Y Wu, V Knäuper, V Montel, W Wang, Wouter Hendrickx, Y Lang, Y-H Lin, Z Yang, Z-G Zhao, ZG Fridlender   +62 more
core   +3 more sources

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Genetic behavior of induced translocation heterozygote in Artemisia annua L.

Electronic Journal of Plant Breeding, 2020
From the population raised from gamma irradiated seeds at different doses (100, 200 and 300 Gy), at 100 Gy phenotypically dissimilar plant (from the control plants) was isolated.
Girjesh Kumar and Rajani Singh
doaj   +1 more source

No more time to stay ‘single’ in the detection of Anisakis pegreffii, A. simplex (s. s.) and hybridization events between them: a multi-marker nuclear genotyping approach [PDF]

, 2016
A multi-marker nuclear genotyping approach was performed on larval and adult specimens of Anisakis spp. (N = 689) collected from fish and cetaceans in allopatric and sympatric areas of the two species Anisakis pegreffii and Anisakis simplex (s.
Acerra, V., Canestrelli, D., Cipriani, P., Levsen, A., MATTIUCCI, Simonetta, Nascetti, G., Paoletti, M., Webb, S. C.   +7 more
core   +2 more sources

Association of TSHR gene single nucleotide intronic polymorphism with the risk of hypothyroid and hyperthyroid disorders in Yazd province

Scientific Reports, 2022
The present study was carried out, for the first time, to evaluate the association of rs2268458 polymorphism, biochemical and environmental factors on hypothyroid and hyperthyroid disorders in thyroid patients and healthy individuals in Yazd province ...
Fahime Sadat Naghibi, Seyed Mohsen Miresmaeili, Amaneh Javid   +2 more
doaj   +1 more source

EPHX1 and GSTP1 polymorphisms are associated with COPD risk: a systematic review and meta-analysis

Frontiers in Genetics, 2023
Background: Chronic obstructive pulmonary disease (COPD) affects approximately 400 million people worldwide and is associated with high mortality and morbidity.
Qinjun Yang, Qinjun Yang, Qinjun Yang, Wanqiu Huang, Dandan Yin, Lu Zhang, Yating Gao, Jiabing Tong, Jiabing Tong, Jiabing Tong, Zegeng Li, Zegeng Li, Zegeng Li   +12 more
doaj   +1 more source

Preliminary genetic evidence of two different populations of Opisthorchis viverrini in Lao PDR [PDF]

, 2017
Opisthorchis viverrini is a major public health concern in Southeast Asia. Various reports have suggested that this parasite may represent a species complex, with genetic structure in the region perhaps being dictated by geographical factors and ...
B Sripa, Bonnie L. Webster, BS Weir, C Grundy-Warr, CD Criscione, CD Criscione, DA Earl, David Blair, Elizabeth J. Carlton, F Prugnolle, F Rousset, G Evanno, GN Huo, JK Pritchard, Joanne P. Webster, M Jakobsson, M Nei, M Nei, M Schuelke, MJ Gorton, MM Breunig, N Chamadol, N Kiatsopit, N Kiatsopit, N Kiatsopit, N Laoprom, N Laoprom, N Laoprom, Nadda Kiatsopit, Nonglak Laoprom, O Pitaksakulrat, Opal Pitaksakulrat, P Sithithaworn, P Sithithaworn, P Sithithaworn, P Sithithaworn, Paiboon Sithithaworn, Poppy H. L. Lamberton, R Peakall, RH Andrews, Robert C. Spear, Ross H. Andrews, S Papadimitriou, S Wright, Thewarach Laha, Trevor N. Petney, W Saijuntha, W Saijuntha, W Saijuntha   +48 more
core   +3 more sources

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling [PDF]

, 2007
Large brain size is one of the defining characteristics of modern humans. Seckel syndrome (MIM 210600), a disorder of markedly reduced brain and body size, is associated with defective ATR-dependent DNA damage signaling.
A Kramer, A Purohit, Anand Saggar, Andrew P Jackson, Ben Hamel, Bertrand Vernay, C Ponting, Carol-Anne Martin, CG Woods, D Chen, D Diviani, Elen Griffith, F Majewski, F Ruschendorf, GK Alderton, GK Alderton, H Dodson, H Loffler, H Niida, HPG Seckel, J Bond, J Bond, JB Dictenberg, K Miyoshi, M Martinez-Campos, M O'Driscoll, Mark O'Driscoll, MR Flory, Nouriya Al Sanna, P Brown, Paola Vagnarelli, Penny A Jeggo, Q Li, RD Martin, S Doxsey, S Sengupta, S Zhang, Sarah Walker, SJ Doxsey, Tom Stiff, WC Zimmerman, William C Earnshaw, Y Shiloh   +42 more
core   +4 more sources

Effect of the Point Mutation in Growth Differentiation Factor 9 Gene in Awassi Sheep Oocytes on Sterility and Fertility

Journal of Pure and Applied Microbiology, 2018
Growth differentiation factor 9 (GDF9) is play a critical role in ovarian follicular development and ovulation rate. The present research was performed to investigate the correlation between single nucleotide polymorphism (SNP) of GDF9 gene and ...
H. Al-Mutar, L. Younis, H. Khawla
doaj   +1 more source