DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study by Parkkinen, L, Trinh, J, Gustavsson, E, Vilariño-Güell, C, Bortnick, S, Latourelle, J, McKenzie, M, Tu, C, Nosova, E, Khinda, J, Milnerwood, A, Lesage, S, Brice, A, Tazir, M, Aasly, J, Haytural, H, Foroud, T, Myers, R, Ben Sassi, S, Hentati, E, Nabli, F, Farhat, E, Amouri, R, Hentati, F, Farrer, M

“…We used data from another cohort of unrelated Tunisian LRRK2 Gly2019Ser carriers for subsequent locus-specific genotyping and association analyses. …”

Lentiviral delivery of CRISPR Cas9 prime editing system for cystic fibrosis by Satyapertiwi, D

“…Insertion of CTT bases at the human HEK3 locus at the +1 position from the cut site (+1CTT) was attempted using the PE-LV vector approach, but editing was not observed when HEK293T cells were used as a model, suggesting that further optimisation is required for the PE-LV construct.…”

Targeted modulation of cardiac energetics via the creatine kinase system by Ostrowski, F

“…</p> <p>Transgenic mice overexpressing CKmt in the heart were generated by a targeted approach, using PhiC31 integration at the ROSA26 locus. Transgene expression was confirmed in vitro in embryonic stem cells, and in vivo at the mRNA and protein levels. …”

Genetic and immunological characterisation of patients with latent autoimmune diabetes in adults (LADA) by Desai, M, Desai, Minal

“…</p> <p>Association analysis of the insulin gene region in LADA (n = 400) showed that the variable number of tandem repeats (VNTR) locus primarily confers susceptibility to disease. …”

Acquired alpha thalassaemia in myelodysplastic syndrome by Cheong, P

“…Chromatin accessibility in differentiating erythroid cells, assayed by ATAC-seq, showed a generalised reduction in accessibility at the alpha globin locus.</p> <p>Constitutive ATRX mutations lead to mild alpha thalassaemia in ATR-X syndrome. …”

Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies by Traylor, M, Persyn, E, Tomppo, L, Klasson, S, Abedi, V, Bakker, MK, Torres, N, Li, L, Bell, S, Rutten-Jacobs, L, Tozer, DJ, Griessenauer, CJ, Zhang, Y, Pedersen, A, Sharma, P, Jimenez-Conde, J, Rundek, T, Grewal, RP, Lindgren, A, Meschia, JF, Salomaa, V, Havulinna, A, Kourkoulis, C, Crawford, K, Marini, S, Mitchell, BD, Kittner, SJ, Rosand, J, Dichgans, M, Jern, C, Strbian, D, Fernandez-Cadenas, I, Zand, R, Ruigrok, Y, Rost, N, Lemmens, R, Rothwell, PM, Anderson, CD, Wardlaw, J, Lewis, CM, Markus, HS, Helsinki Stroke, Study Dutch Parelsnoer Institute-Cerebrovascular Accident (CVA) Study Group, National Institute of Neurological Disorders and Stroke (NINDS) Stroke Genetics Network, UK DNA Lacunar Stroke Study Investigators, International Stroke Genetics Consortium

“…<p><strong>Background</strong> The genetic basis of lacunar stroke is poorly understood, with a single locus on 16q24 identified to date. We sought to identify novel associations and provide mechanistic insights into the disease.…”

The role of RREB1 in human pancreatic beta cell development and function by Mattis, KK

“…Genome-wide association studies have uncovered multiple independent signals which alter risk for type 2 diabetes (T2D) and influence related glycaemic traits at the RREB1 locus. Fine-mapping revealed that one of these signals is driven by a common coding variant rs9379084 (p.D1171N), highlighting RREB1 as the causal transcript. …”

The origin and tectonic history of the Alboran Basin: Insights from Leg 161 results by Comas, M, Platt, J, Soto, J, Watts, A

“…Conspicuous lateral variations in rift-related subsidence phases in the basin suggest migration of the locus of extension, and probably also changes in tectonic-transport direction during the Miocene rifting. …”

Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture by Zheng, H, Forgetta, V, Hsu, Y-H, Estrada, K, Rosello-Diez, A, Leo, PJ, Dahia, C, Park-Min, K, Tobias, J, Kooperberg, C, Kleinman, A, Styrkarsdottir, U, Liu, C, Uggla, C, Evans, D, Nielson, C, Walter, K, Pettersson-Kymmer, U, McCarthy, S, Eriksson, J, Kwan, T, Jhamai, M, Trajanoska, K, Memari, Y, Min, J, Huang, J, Danecek, P, Wilmot, B, Li, R, Chou, W, Mokry, L, Moayyeri, A, Claussnitzer, M, Cheng, C, Cheung, W, Medina-Gómez, C, Ge, B, Chen, S, Choi, K, Oei, L, Fraser, J, Kraaij, R, Hibbs, M, Gregson, C, Paquette, D, Hofman, A, Wibom, C, Tranah, G, Marshall, M, Gardiner, B, Cremin, K, Auer, P, Hsu, L, Ring, S, Tung, J, Thorleifsson, G, Enneman, A, van Schoor, N, de Groot, L, van der Velde, N, Melin, B, Kemp, J, Christiansen, C, Sayers, A, Zhou, Y, Calderari, S, van Rooij, J, Carlson, C, Peters, U, Berlivet, S, Dostie, J, Uitterlinden, A, Williams, S, Farber, C, Grinberg, D, LaCroix, A, Haessler, J, Chasman, D, Giulianini, F, Rose, L, Ridker, P, Eisman, J, Nguyen, T, Center, J, Nogues, X, Garcia-Giralt, N, Launer, L, Gudnason, V, Mellström, D, Vandenput, L, Amin, N, van Duijn, C, Karlsson, M, Ljunggren, Ö, Svensson, O, Hallmans, G, Rousseau, F, Giroux, S, Bussière, J, Arp, P, Koromani, F, Prince, R, Lewis, J, Langdahl, B, Hermann, A, Jensen, J, Kaptoge, S, Khaw, K, Reeve, J, Formosa, M, Xuereb-Anastasi, A, Åkesson, K, McGuigan, F, Garg, G, Olmos, J, Zarrabeitia, M, Riancho, J, Ralston, S, Alonso, N, Jiang, X, Goltzman, D, Pastinen, T, Grundberg, E, Gauguier, D, Orwoll, E, Karasik, D, Davey-Smith, G, Smith, A, Siggeirsdottir, K, Harris, T, Zillikens, M, van Meurs, J, Thorsteinsdottir, U, Maurano, M, Timpson, N, Soranzo, N, Durbin, R, Wilson, S, Ntzani, E, Brown, M, Stefansson, K, Hinds, D, Spector, T, Cupples, L, Ohlsson, C, Greenwood, C, Jackson, R, Rowe, D, Loomis, C, Evans, D, Ackert-Bicknell, C, Joyner, A, Duncan, E, Kiel, D, Rivadeneira, F, Richards, J

“…We identified a low‐frequency non‐coding variant near a novel locus, EN1, with an effect size fourfold larger than the mean of previously reported common variants for lumbar spine BMD8 (rs11692564(T), MAF = 1.6%, replication effect size = +0.20 s.d., Pmeta = 2 × 10−14), which was also associated with a decreased risk of fracture (odds ratio = 0.85; P = 2 × 10−11; ncases = 98,742 and ncontrols = 409,511). …”

Genome wide analysis of chromosomal alterations in oral squamous cell carcinomas revealed over expression of MGAM and ADAM9 by Vincent-Chong, V.K., Anwar, A., Karen-Ng, L.P., Cheong, S.C., Yang, Y.H., Pradeep, P.J., Rahman, Z.A.A., Ismail, S.M., Zaini, Z.M., Prepageran, N., Kallarakkal, T.G., Ramanathan, A., Mohayadi, N.A.B.M, Rosli, N.S.B.M., Mustafa, W.M.W., Abraham, M.T., Tay, K.K., Zain, R.B.

“…In order to verify the CNAs from aCGH using quantitative polymerase chain reaction (qPCR), the three top most amplified regions and their associated genes, namely ADAM5P (8p11.23-p11.22), MGAM (7q34) and SIRPB1 (20p13.1), were selected in this study. The ADAM5P locus was found to be amplified in 39 samples and deleted in one; MGAM (24 amplifications and 3 deletions); and SIRPB1 (12 amplifications, others undetermined). …”
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Genetic characterization of Kedah Kelantan cattle and its crossbred types in Malaysia by Abdelwahid Bashir, Haytham Hago

“…The results showed that all 30 microsatellites loci were polymorphic for all the breed types, with 8 to 18 alleles per locus. Heterozygosity values observed for all breed types were moderate and ranged from 0.54 (KK) to 0.65 (Charoke), and were lower than the expected heterozygosity values. …”
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Micropropagation of tea (Camellia sinensis (L.) kuntze) using temporary immersion system by Gonbad, Reza Azadi

“…Finally the genetic fidelity of the micropropaged tea plants wasssessed using ISSR (Inter-Simple Sequence Repeats). The amplified ISSR locus from 11 markers showed 100% similarity between micropropagated plants (derived in the third subculture of by TIS) and 10 randomly selected acclimatized plantlets with their mother plant DNA of tea clone Iran 100. …”
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Identification and characterisation of flotillin-2 as a molecular target in breast and bladder cancers by Jafarzadeh, Narges

“…Overexpression of a lipid raft associated protein, Flotillin 2 (FLOT2) in invasive cancers was identified. The FLOT2 locus (17q11-q12) was associated with copy number gains in 15% of tumours.Flotillin-2 is an important lipid raft marker and is predicted to be involved in cell-matrix adhesion, cell migration and signal transduction. …”
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Improvement of Pasteurella multocida serotype B:2 draft genome sequence and analysis of its genome structure and function by Yap, Huan Yong

“…Further analysis at the locus of predicted SXT element in strain PMTB showed that a large chunk of DNA fragment in the middle part that supposedly harbored antibiotic resistance genes was missing due to unresolved genome sequence gap. …”
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Characterisation and pathogenicity of Neofusicoccum ribis and gene expression study of pathogenesis-related genes in rubber (Hevea brasiliensis Muell. Arg) by Nyaka Ngobisa, Aurelie Irene Claire

“…All isolates were identified based on cultural characteristics such as conidial production in various cultural media (PDA, MEA, CDA, CMA) and sequence data generated from the internal transcribed spacers (ITS1 and ITS2), the 5.8S rRNA gene and an unknown locus (BotF15) containing microsatellite repeats. …”
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Morphological and Genetic Identification, and Population Structure of Kelah (Tor Tambroides) by Keong, Remmy Bun Poh

“…Both the (χ2) chi-square and the (G2) likelihood ratio tests significant differences (P<0.05), indicating deviations from Hardy-Weinberg equilibrium in most loci except for one locus (MnSC4-1A) in the Negeri Sembilan population and two loci (MnLR2-1-52A and MnSC4-1A) in the Kelantan population. …”
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Microsatellite Development And Cross Species Amplification For Characterization Of Hatchery- Bred Probarbus Jullieni by Ghiasi, Naghmeh

“…The percentage of polymorphic loci was 72% in ST and 56% in T population, the number of observed allele per polymorphic locus ranged from two to six for the ST population and from two to five for the T population. …”
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Genetic analysis and qtl mapping of brown planthopper (Nilaparvata lugens stål.) biotypes 2 and 3 resistance in rice by Shabanimofrad, Mahmoodreza

“…Meanwhile, two putative QTLs (qBph-3-1 and qBph-6-1) with LOD > 3.0 and eight suggestive QTLs (qBph-1-1, qBph-7-1, qBph-6-1, qBph-9-1,qBph-3-1, qBph-6-1, qBph-10-1 and qBph-12-1, LOD < 3.0) were detected for Biotype 3. The individual locus found in the F3 population for traits studied, explained 7 to 24% of the total phenotypic variance in resistance against BPH biotypes. …”
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Genetic Characterization of Three Deer Species in Malaysia by A. El-Jaafari, Habiba Ali

“…The rusa and sika populations showed significant (P<0.05) deviations from HWE for this locus. Glucose-6-phosphate dehydrogenase (GGPD), although polymorphic, was monomorphic within each species. …”
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Genetic Characterisation of Mafriwal Dairy Cattle of Malaysia Using Quantitative and Molecular Methods by Palani, Kalaiselvi

“…The polymorphic loci showed 4 to 10 alleles, with 8 to 20 genotypes per locus. The allele frequencies ranged from 0.01 to 0.45 and genotypic frequencies ranged from 0.03 to 0.38. …”
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