Effects of hormone concentrations on anther cultures and the acquisition of regenerated plants of five awnless triticale genotypes by Jun Ma, Fangyuan Zhao, Yinxia Zhang, Xinhui Tian, Wenhua Du

“…Flow cytometry analyses showed that 15 of the 20 DH0 generation plants that grew normally in the field were doubled haploids. The average chromosome doubling success rate was 55.6%. Analyses of agronomic traits showed that the 11 DH1 doubled haploid plants reached the standard for awnless triticale, so they are candidate materials for breeding new awnless triticale varieties. …”
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Congenital Chylothorax: Case Report by Egemen Tolunay, Bulut Varlı, Fırat Tülek, Emre Pabuçcu, Şerife Esra Çetinkaya, Korhan Kahraman, Acar Koç

“…Fetal thoracentesis revealed lymphocyte predominance and chylothorax was diagnosed. Chromosome analysis, metabolic screening and TORCH screening were normal. …”
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Desmoplastic Small Round Cell Tumor of Stomach by Ahmed Abu-Zaid, Ayman Azzam, Asma AlNajjar, Hussa Al-Hussaini, Tarek Amin

“…The characteristic chromosomal translocation (t(11; 22)(p13; q12)) was demonstrated on fluorescence in situ hybridization (FISH) technique. …”
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X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1–4 Genes by Aleksandra Rojek, Maciej R. Krawczynski, Aleksander Jamsheer, Anna Sowinska-Seidler, Barbara Iwaniszewska, Ewa Malunowicz, Marek Niedziela

“…We show that NR0B1 (DAX1) gene analysis is important for confirmation of AHC diagnosis and highlights the role of genetic counseling in families with AHC patients, particularly those with X chromosome microdeletions, covering more than NR0B1 (DAX1) alone. …”
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Context effects on repair of 5′‐overhang DNA double‐strand breaks induced by Cas12a in Arabidopsis by Sébastien Lageix, Miguel Hernandez, Maria E. Gallego, Jérémy Verbeke, Yannick Bidet, Sandrine Viala, Charles I. White

“…We present here an analysis of recombination at targeted chromosomal 5′ overhang DSB generated by the FnCas12a endonuclease in the plant, Arabidopsis thaliana. …”
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Genome sequences of four Ixodes species expands understanding of tick evolution by Alexandra Cerqueira de Araujo, Benjamin Noel, Anthony Bretaudeau, Karine Labadie, Matéo Boudet, Nachida Tadrent, Benjamin Istace, Salima Kritli, Corinne Cruaud, Robert Olaso, Jean-François Deleuze, Maarten J. Voordouw, Caroline Hervet, Olivier Plantard, Aya Zamoto-Niikura, Thomas Chertemps, Martine Maïbèche, Frédérique Hilliou, Gaëlle Le Goff, Jindřich Chmelař, Vilém Mazák, Mohamed Amine Jmel, Michalis Kotsyfakis, José María Medina, Michael Hackenberg, Ladislav Šimo, Fotini A. Koutroumpa, Patrick Wincker, Petr Kopáček, Jan Perner, Jean-Marc Aury, Claude Rispe

“…Results Here, we present the genome sequences of four tick species, derived from a single female individual, with a particular focus on the European species Ixodes ricinus, achieving a chromosome-level assembly. Additionally, draft assemblies were generated for the three other Ixodes species, I. persulcatus, I. pacificus, and I. hexagonus. …”
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HMGB1 Acts in Synergy with Lipopolysaccharide in Activating Rheumatoid Synovial Fibroblasts via p38 MAPK and NF-κB Signaling Pathways by Zheng-Wen He, Yang-Hua Qin, Zhi-Wei Wang, Yan Chen, Qian Shen, Sheng-Ming Dai

“…High-mobility group box chromosomal protein 1 (HMGB1) or lipopolysaccharide (LPS) alone failed to induce significant changes in proliferation of cultured SF from RA patients, but premixed HMGB1 with LPS (HMGB1-LPS) significantly facilitated SF proliferation. …”
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Complete Genome Sequence of the Plant Growth-Promoting Bacterium Hartmannibacter diazotrophicus Strain E19T by Christian Suarez, Stefan Ratering, Torsten Hain, Moritz Fritzenwanker, Alexander Goesmann, Jochen Blom, Trinad Chakraborty, Boyke Bunk, Cathrin Spröer, Jörg Overmann, Sylvia Schnell

“…The E19T genome comprises one circular chromosome and one plasmid containing several genes involved in salt adaptation and genes related to plant growth-promoting traits under salt stress. …”
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DNMT3A Mutations in Patients with Acute Myeloid Leukemia in South Brazil by Annelise Pezzi, Lauro Moraes, Vanessa Valim, Bruna Amorin, Gabriela Melchiades, Fernanda Oliveira, Maria Aparecida da Silva, Ursula Matte, Maria S. Pombo-de-Oliveira, Rosane Bittencourt, Liane Daudt, Lúcia Silla

“…Our aims were to determine the frequency of somatic mutations in the gene DNMT3A and major chromosomal translocations in a sample of patients with AML. …”
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Metabolomic profiles of preterm small-for-gestational age infants by Koh Okuda, Nobuhiko Nagano, Kimitaka Nakazaki, Kengo Matsuda, Wataru Tokunaga, Kazumasa Fuwa, Ryoji Aoki, Aya Okahashi, Ichiro Morioka

“…We conducted a gestational age (GA)-matched case-control study that included 30 preterm infants who were categorized into two groups: SGA infants, with a birth weight (BW) < 10th percentile for GA (n = 15) and non-SGA infants, with BW ≥ 10th percentile for GA (n = 15). SGA infants with chromosomal or genetic abnormalities were excluded. …”
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Ayurvedic Management of Huntington’s Chorea (Tandava Roga): A Case of Rare Genetic Condition by Mrunal Sunil Bole, Sourabh Deshmukh, Trupti Thakre

“…The disease is caused by a genetic mutation involving Cytosine-Adenine-Guanine (CAG) repeat expansion on chromosome 4. According to Ayurveda, Huntington’s chorea can be correlated with Tandava Roga, as mentioned in the Sharangdhara Samhita. …”
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Genetic coupling of enhancer activity and connectivity in gene expression control by Helen Ray-Jones, Chak Kei Sung, Lai Ting Chan, Alexander Haglund, Pavel Artemov, Monica Della Rosa, Luminita Ruje, Frances Burden, Roman Kreuzhuber, Anna Litovskikh, Eline Weyenbergh, Zoï Brusselaers, Vanessa Xue Hui Tan, Mattia Frontini, Chris Wallace, Valeriya Malysheva, Leonardo Bottolo, Elena Vigorito, Mikhail Spivakov

“…Abstract Gene enhancers often form long-range contacts with promoters, but it remains unclear if the activity of enhancers and their chromosomal contacts are mediated by the same DNA sequences and recruited factors. …”
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A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy by Hane Lee, Dongseok Moon, Rin Khang, Go Hun Seo, Chang Ki Yoon, Un Chul Park, Kyu Hyung Park, Eun Kyoung Lee

“…A homozygous frameshift variant NM_000329.3:c.1067del (p.Asn356MetfsTer17) in RPE65 was identified by ES with the entire chromosome 1 proving to be paternal UPiD. Within 5 months after the molecular diagnosis, the patient was treated with subretinal voretigene neparvovec (VN) therapy and is being followed up for prognosis. …”
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Comparative analysis of HKTs in six poplar species and functional characterization of PyHKTs in stress-affected tissues by Xiaojiao Liu, Lincui Shi, Hezi Bai, Jing Wang, Anmin Yu, Aizhong Liu, Ping Li

“…The number of homologs and their chromosome locations indicated the differentiation of HKTs during poplar evolution and adaptation. …”
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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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Feasibility and potential diagnostic value of [18F]PI-2620 PET in patients with down syndrome and Alzheimer’s disease: a case series by Olivia Wagemann, Olivia Wagemann, Matthias Brendel, Nicolai Franzmeier, Nicolai Franzmeier, Nicolai Franzmeier, Georg Nübling, Georg Nübling, Johannes Gnörich, Mirlind Zaganjori, Catharina Prix, Anna Stockbauer, Anna Stockbauer, Elisabeth Wlasich, Sandra V. Loosli, Sandra V. Loosli, Katja Sandkühler, Lukas Frontzkowski, Günter Höglinger, Günter Höglinger, Günter Höglinger, Johannes Levin, Johannes Levin, Johannes Levin

“…Purpose of the reportAdults with Down Syndrome (DS) have a substantially increased risk for Alzheimer’s disease (AD) due to the triplicated amyloid-precursor-protein gene on chromosome 21, resulting in amyloid and tau accumulation. …”
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Clinical relevance and druggability of sole reciprocal kinase fusions: A large‐scale study by Jiao Feng, Tonghui Ma, Chunyang Wang, Baoming Wang, Qian Liu, Zhengchuang Liu, Houquan Tao, Zaiyuan Ye

“…Comparative analysis with an MSKCC cohort confirmed the prevalence in diverse cancer types and identified unique fusion partners and chromosomal locales. Cross‐validation through RNA‐NGS and FISH authenticated the existence of functional kinase domains in subsets including ALK, ROS1, RET, and BRAF, which correlated with positive clinical responses to targeted kinase inhibitors (KIs). …”
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Complete genome sequence of Pseudarthrobacter sp. NIBRBAC000502770 from coal mine of Hongcheon on Republic of Korea by Min-Kyu Park, Yeong-Jun Park, Myung-Suk Kang, Min-Ha Kim, Soo-Young Kim, Jae-Ho Shin

“…The genome contains a chromosome (4,403,796 bp) and a plasmid (74,326 bp, named pMK-1) with 286-fold coverage. …”
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46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis by Giampaolo Papi, Rosa Maria Paragliola, Paola Concolino, Carlo Di Donato, Alfredo Pontecorvi, Salvatore Maria Corsello

“…Furthermore, diffuse osteopenia and osteoporosis and incomplete ossification of the growth plate cartilages were demonstrated. Chromosomal analysis showed a normal male 46,XY, karyotype, and on molecular analysis of the CYP17A1 gene she resulted homozygous for the g.4869T>A; g.4871delC (p.Y329Kfs?) …”
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Epigenetic Alterations and an Increased Frequency of Micronuclei in Women with Fibromyalgia by Victoria Menzies, Debra E. Lyon, Kellie J. Archer, Qing Zhou, Jenni Brumelle, Kimberly H. Jones, G. Gao, Timothy P. York, Colleen Jackson-Cook

“…Results support the need for future research to further examine the potential role of epigenetic and acquired chromosomal alterations as a possible biological mechanism underlying FM.…”
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