Results 21 to 30 of about 7,351,528 (349)

Variability of Iron Load in Patients of Sickle Cell Anaemia (HbSS): A study from Eastern India [PDF]

Journal of Clinical and Diagnostic Research, 2017
Introduction: Sickle Cell Anaemia (SCA) is one of the commonest haemoglobinopathies due to a point mutation (A→T) of the b-globin gene. Out of five haplotypes, the Arab-Indian haplotype present in India is one of the least severe phenotype and least ...
Pranati Mohanty, Rabindra Kumar Jena, Sudha Sethy   +2 more
doaj   +1 more source

Resistance risk and molecular mechanism associated with resistance to picoxystrobin in Colletotrichum truncatum and Colletotrichum gloeosporioides

Journal of Integrative Agriculture, 2023
Anthracnose, caused by Colletotrichum truncatum and C. gloeosporioides, is amongst the most serious diseases of soybean in China. Picoxystrobin, a quinone outside inhibitor fungicide, is commonly used for the control of anthracnose.
Niu-niu SHI, Jin-pan LIAN, De-zhu QIU, Fu-ru CHEN, Yi-xin DU   +4 more
doaj   +1 more source

Dominant point mutation in a tetraspanin gene associated with field-evolved resistance of cotton bollworm to transgenic Bt cotton

Proceedings of the National Academy of Sciences of the United States of America, 2018
Significance Crops genetically engineered to produce insecticidal proteins from the bacterium Bacillus thuringiensis (Bt) kill some major pests and reduce use of insecticide sprays.
Lin Jin, Jing Wang, F. Guan, Jianpeng Zhang, Shan Yu, Shaoyan Liu, Yuanyuan Xue, Lingli Li, Shuwen Wu, Xingliang Wang, Yihua Yang, H. Abdelgaffar, J. Jurat-Fuentes, B. Tabashnik, Yidong Wu   +14 more
semanticscholar   +1 more source

Study of SNP 775C>T polymorphism within the bovine ITGB2 gene in Polish Black-and-White cattle and in local breeds of cattle

Czech Journal of Animal Science, 2007
The present study addresses the characteristics of the frequency and segregation of alleles determining the SNP 775C>T polymorphism within the bovine ITGB2 gene in the Black-and-White cattle population as well as in two endemic breeds of Polish Red ...
U. Czarnik, M. Galiński, T. Zabolewicz, Ch.S. Pareek   +3 more
doaj   +1 more source

Emergence of Echinocandin Resistance Due to a Point Mutation in the fks1 Gene of Aspergillus fumigatus in a Patient with Chronic Pulmonary Aspergillosis

Antimicrobial Agents and Chemotherapy, 2017
We have identified the first case of an fks1 hot spot 1 point mutation causing echinocandin resistance in a clinical Aspergillus fumigatus isolate recovered from a chronic pulmonary aspergillosis patient with an aspergilloma who first failed azole and ...
Cristina Jimenez-Ortigosa, C. Moore, D. Denning, D. Perlin   +3 more
semanticscholar   +1 more source

Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers. [PDF]

, 2019
Background and purposeThe objective of this study was to longitudinally investigate the trajectory of change in 1 H MRS measurements in asymptomatic MAPT mutation carriers who became symptomatic during follow-up, and to determine the time at which the ...
Boeve, Bradley F, Boxer, Adam L, Brushaber, Danielle, Chen, Qin, Dheel, Christina, Fields, Julie, Forsberg, Leah, Gavrilova, Ralitza, Gearhart, Debra, Graff-Radford, Jonathan, Graff-Radford, Neill, Gunter, Jeffrey L, Haley, Dana, Jones, David, Kantarci, Kejal, Knopman, David, Kraft, Ruth, Lapid, Maria, Lesnick, Timothy, Rademakers, Rosa, Rosen, Howie, Tosakulwong, Nirubol, Wszolek, Zbigniew K   +22 more
core   +3 more sources

A novel human pain insensitivity disorder caused by a point mutation in ZFHX2

Brain : a journal of neurology, 2017
Studies of monogenic heritable pain disorders provide valuable insights into human pain mechanisms. Habib et al. show that a point mutation in the gene ZFHX2 causes an autosomal dominant form of pain insensitivity.
A. Habib, A. Matsuyama, A. L. Okorokov, S. Santana-Varela, J. Bras, A. Aloisi, E. Emery, Y. Bogdanov, Maryne Follenfant, Samuel J. Gossage, Mathilde Gras, J. Humphrey, A. Kolesnikov, Kim Le Cann, Shengnan Li, M. S. Minett, Vanessa Pereira, C. Ponsolles, Shafaq Sikandar, J. M. Torres, K. Yamaoka, Jing Zhao, Y. Komine, T. Yamamori, N. Maniatis, K. Panov, H. Houlden, J. Ramírez, D. Bennett, L. Marsili, V. Bachiocco, J. Wood, J. Cox   +32 more
semanticscholar   +1 more source

Further genetic heterogeneity for autosomal dominant human sutural cataracts [PDF]

, 2003
A unique sutural cataract was observed in a 4-generation German family to be transmitted as an isolated autosomal, dominant trait. Since mutations in the gamma-crystallin encoding CRYG genes have previously been demonstrated to be the most frequent ...
Billingsley, G., Graw, Jochen, Heon, E., Illig, T., Klopp, N., Rudolph, G., Wjst, M.   +6 more
core   +1 more source

Sodium leak through K2P potassium channels and cardiac arrhythmia, an emerging theme. [PDF]

, 2017
In this issue of EMBO Molecular Medicine, Decher et al (2017) identify a point mutation in the K2P2 (TREK‐1) potassium (K+) channel that changes function in just those ways expected to predispose to right ventricular outflow tract (RVOT) ventricular
Goldstein, Steve An
core   +2 more sources

Dishevelled genes mediate a conserved mammalian PCP pathway to regulate convergent extension during neurulation [PDF]

, 2006
The planar cell polarity (PCP) pathway is conserved throughout evolution, but it mediates distinct developmental processes. In Drosophila, members of the PCP pathway localize in a polarized fashion to specify the cellular polarity within the plane of the
Brinkman, Brendan C., Chen, Ping, Dickinson, Mary E., Fraser, Scott E., Hamblet, Natasha S., Mark, Sharayne, Segil, Neil, Wallingford, John B., Wang, Jianbo, Wynshaw-Boris, Anthony   +9 more
core   +1 more source