Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiency by Sebastián Gutiérrez-Hincapié, Julio César Orrego, José Luis Franco, Claudia M. Trujillo-Vargas

“…The patient presented a nonsense variant in the exon 3 of the MAGT1 gen (c.409C>T, rs387906724) in the X chromosome, resulting in an amino acid substitution of arginine for a stop codon in the position 137 of the protein (R137X). …”
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Rare variants in previously identified linkage regions associated with carotid plaque in Dominican Republic families. by Nicole D Dueker, Ashley Beecham, Liyong Wang, Chuanhui Dong, Ralph L Sacco, Susan H Blanton, Tatjana Rundek

“…Examination of the sequenced family pedigrees revealed two missense variants on chromosome 11 which co-segregated with plaque presence in one of our families; rs61751342 (located in DENND2B), and rs61760882 (located in RNF141). …”
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Sarco(endo)plasmic Reticulum Ca2+-ATPase-2 Gene: Structure and Transcriptional Regulation of the Human Gene by Angel Zarain-Herzberg, Georgina Alvarez-Fernandez

“…The hSERCA2 gene is located in chromosome 12 position q24.1 in Contig NT_009770.8, spans 70 kb, and is organized in 21 exons intervened by 20 introns. …”
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Genetic analysis of scab disease resistance in common bean (Phaseolus vulgaris) varieties using GWAS and functional genomics approaches by Shadrack Odikara Oriama, Benard W. Kulohoma, Evans Nyaboga, Y. O. Masheti, Reuben Otsyula

“…Genomic analysis revealed a significant association on chromosome one SNP S1_6571566 where the protein-coding sequence had a resistant possibility of 55% and annotated to the Enhancer of Poly-comb like protein. …”
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Naturally occurring variation in a cytochrome P450 modifies thiabendazole responses independently of beta-tubulin. by J B Collins, Clayton M Dilks, Steffen R Hahnel, Briana Rodriguez, Bennett W Fox, Elizabeth Redman, Jingfang Yu, Brittany Cooke, Kateryna Sihuta, Mostafa Zamanian, Peter J Roy, Frank C Schroeder, John S Gilleard, Erik C Andersen

“…We identified a quantitative trait locus (QTL) on chromosome V independent of all beta-tubulin genes and overlapping with two promising candidate genes, the cytochrome P450 gene cyp-35D1 and the nuclear hormone receptor nhr-176. …”
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Extreme-phenotype genome-wide association study (XP-GWAS) of powdery mildew race 2 W tolerance in the USDA Citrullus germplasm collection by Sandra E. Branham, Venkata Rao Ganaparthi, W. Patrick Wechter, Younghoon Park, Todd Wehner, Angela Davis, Antonia Tetteh, Laura Massey, Sue Hammar, Rebecca Grumet, Shaker Kousik, Amnon Levi

“…Two adjacent SNPs on chromosome 7 were significantly associated with P. xanthii race 2 W tolerance in the bulks and two additional SNPs had a strong signal in the XP-GWAS analysis. …”
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Phytoalexin deficient 4 is associated with the lesion mimic trait in watermelon clalm mutant (Citrullus lanatus) by Jiale Shi, Congji Yang, Yuanyuan Qin, Qingqing Liu, Shengqi Hua, Defeng Wu, Wei Dong

“…Whole genome resequencing–bulked segregant analysis demonstrated that this gene is located on chromosome 4 from 3,760,000 bp to 7,440,000 bp, a region corresponding to a physical distance of 3.68 Mb encompassing approximately 72 annotated genes. …”
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Repression of CADM1 transcription by HPV type 18 is mediated by three-dimensional rearrangement of promoter-enhancer interactions. by Karen Campos-León, Jack Ferguson, Thomas Günther, C David Wood, Steven W Wingett, Selin Pekel, Christy S Varghese, Leanne S Jones, Joanne D Stockton, Csilla Várnai, Michelle J West, Andrew Beggs, Adam Grundhoff, Boris Noyvert, Sally Roberts, Joanna L Parish

“…We tested this hypothesis using 4C-Seq (circular chromosome confirmation capture-sequencing) and show that HPV18 establishment causes a loss of long-range chromosomal interactions between the CADM1 transcriptional start site and the upstream transcriptional enhancer. …”
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Role of Anti-MICA Antibodies in Graft Survival of Renal Transplant Recipients of India by Mohit Chowdhry, R. N. Makroo, Mandhata Singh, Manoj Kumar, Yogita Thakur, Vandana Sharma

“…The MIC (MHC class I chain-related) genes are a group of nonclassical MHC genes, located in the MHC class 1 region of chromosome 6. The aim of the present study was to find the prevalence of MHC class 1 chain-related (MICA) alloantibodies in patients undergoing live-related donor renal transplantation and its role in short-term graft survival. …”
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Study of fertility and cytogenetic variability in androgenic plants (R0 and R1) of alloplasmic introgression lines of common wheat by T. S. Osadchaya, N. V. Trubacheeva, L. A. Kravtsova, I. A. Belan, L. P. Rosseeva, L. A. Pershina

“…Fertile R0 regenerant plants were identified that segregated in R1 for fertility and chromosome numbers. It has been demonstrated that DH lines are best developed from highfertility R1 plants with 2n = 42 irrespective of fertility in R0.…”
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Screening and Whole-Genome Sequencing Analysis of Fructofuranose-Metabolizing Lactiplantibacillus plantarum 19M03 by SUN Daqing, QI He, DI Ziqing, GE Xianglin, HONG Qingping, DU Xinrui, YAO Yuxi, LI Hongfei

“…The sequencing results showed that the genome of strain 19M03 contained one chromosome and nine plasmids, with a total length of 3 246 316 bp, GC content of 44.53%, 3 084 coding genes, 66 tRNAs and 16 rRNAs. …”
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MAPPING OF THE LOCI CONTROLLING THE RESISTANCE TO PYRENOPHORA TERES F. TERES AND COCHLIOBOLUS SATIVUS IN TWO DOUBLE HAPLOID BARLEY POPULATIONS by O. S. Afanasenko, A. V. Koziakov, P. Hedlay, N. M. Lashina, A. V. Anisimova, O. Manninen, M. Jalli, E. K. Potokina

“…Four novel QTLs controlling resistance to P. teres f. teres were found on chromosomes 1H, 4H, and 5H. Five novel QTLs associated with resistance to C. sativus were found on chromosomes 2Н, 3Н, 5Н, and 6Н in DH population B.…”
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Genome Analysis of Rhodococcus Sp. DSSKP-R-001: A Highly Effective β-Estradiol-Degrading Bacterium by Hongyan Zhao, Kejian Tian, Qing Qiu, Yu Wang, Hongyan Zhang, Shuang Ma, Shenbao Jin, Hongliang Huo

“…The genome of Rhodococcus strain DSSKP-R-001 consists of three replicons: one chromosome and two plasmids of 5.2, 0.09, and 0.09, respectively. …”
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Prevalence and Molecular Genetics of Methicillin-Resistant Staphylococcus aureus Colonization in Nursing Homes in Saudi Arabia by Ahmed Albarrag, Ashwag Shami, Abrar Almutairi, Sara Alsudairi, Sumayh Aldakeel, Amani Al-Amodi

“…The aim of this study was to determine the rates of MRSA strains and the types of Staphylococcal Cassette Chromosome mec (SCCmec)in nursing homes in Saudi Arabia. …”
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Endosperm culture-based allotriploid hybrid production from an interspecific cross of Haemanthus spp.: new insights into polyploidization and hybridization by Arisa Nakano, Masahiro Mii, Yoichiro Hoshino

“…ITS sequencing and karyotype analyses detected that all the 16 pairs of plantlets analyzed were hybrids, indicating that most endosperm-derived plantlets were allotriploid with a parental chromosome ratio of 2:1 (maternal: paternal). In addition, chloroplast DNA sequencing revealed maternal inheritance in the endosperm-derived plantlets, consistent with embryo-derived plantlets. …”
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Familial Mediterranean Gene (MEFV) Mutation in Parents of Children with Familial Mediterranean Fever: What Are the Exceptions? by Leila Shahbaznejad, Sayed-Reza Raeeskarami, Raheleh Assari, Abbas Shakoori, Hamidreza Azhideh, Yahya Aghighi, Fatemeh Tahghighi, Vahid Ziaee

“…Familial Mediterranean Fever (FMF) is one of the most prevalent periodic fever syndromes; MEFV, the responsible gene for the disease, is in the short arm of chromosome16. In the considerable count of the FMF patients, only one mutation is found in the MEFV and parents, who were the obligatory carriers for that mutation, were asymptomatic. …”
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The concept of natural genome reconstruction. Part 1. Basic provisions of the “natural genome reconstruction” concept. Changing the genome of hematopoietic stem cells using several... by L. A. Yakubov, O. S. Taranov, S. V. Sidorov, S. D. Nikonov, A. A. Ostanin, E. R. Chernykh, N. A. Kolchanov, S. S. Bogachev

“…It is assumed that as a result of stochastic acts of homologous exchange, chromosome loci are corrected in hematopoietic stem cells that have acquired mutations during the existence of the organism, which are the cause of clonal hematopoiesis associated with old age. …”
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Selective JAK2 pathway inhibition enhances anti-leukemic functionality in CD19 CAR-T cells by Kohei Mitsuno, Masaya Suematsu, Yuki Naito, Azusa Mayumi, Hideki Yoshida, Shinya Osone, Toshihiko Imamura, Yozo Nakazawa, Shigeki Yagyu, Tomoko Iehara

“…While CD19-targeted CAR-T cells and Janus kinase (JAK) inhibitors have independently shown efficacy against certain B-cell leukemias, such as Philadelphia chromosome-like acute lymphoblastic leukemia, the concurrent use of JAK1/2 inhibitors, such as ruxolitinib, has been implicated in reducing CAR-T cell potency by inhibiting the JAK1-dependent T cell activation pathway. …”
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Combining Individual‐Based Radio‐Tracking With Whole‐Genome Sequencing Data Reveals Candidate for Genetic Basis of Partial Migration in a Songbird by Matthias H. Weissensteiner, Kira Delmore, Valentina Peona, Juan Sebastian Lugo Ramos, Gregoire Arnaud, Julio Blas, Bruno Faivre, Ivan Pokrovsky, Martin Wikelski, Jesko Partecke, Miriam Liedvogel

“…Despite overall low differentiation within the partial migratory German population, we identified several outlier regions with elevated differentiation on four distinct chromosomes. The region with the highest relative and absolute differentiation was located on chromosome 9, overlapping PER2, which has previously been shown to be involved in the control of the circadian rhythm across vertebrates. …”
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The extremely halotolerant black yeast Hortaea werneckii - a model for intraspecific hybridization in clonal fungi by Polona Zalar, Jerneja Zupančič, Cene Gostinčar, Janja Zajc, G. Sybren de Hoog, Filomena De Leo, Armando Azua-Bustos, Nina Gunde-Cimerman

“…Due to the limited number of phylogenetically informative characters in the ribosomal DNA dataset, the partial genes encoding for β-tubulin (BTB) and mini-chromosome maintenance protein (MCM7) were also sequenced. …”
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