A Newborn with Cleft Palate Associated with PTEN Hamartoma Tumor Syndrome by Ulf Nestler, Daniel Gräfe, Vincent Strehlow, Robin-Tobias Jauss, Andreas Merkenschlager, Annika Schönfeld, Florian Wilhelmy

“…<b>Background</b>: PTEN hamartoma tumor syndrome (PHTS) has evolved into an umbrella term for a range of syndromes, characterized by loss-of-function variants in the phosphatase and tensin homolog (PTEN) tumor suppressor gene on chromosome 10q23.31. This can result in a lifelong tumor predisposition in patients. …”
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Adrenoleukodystrophy: Symptoms, Treatment and Newborn Screening. Literature Review and Clinical Case by Laura Regelskytė, Rūta Praninskienė

“…It is inherited through the X chromosome in a recessive manner. Due to the ABCD1 gene mutation, there is a disorder of peroxisomes, thus very long-chain fatty acids are not degraded properly. …”
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Chemotaxonomic studies on <i>Schwenckia americana</i> LINN by C Wahua, SM Sam

“…The cytological studies showed a diploid chromosome number of 2n = 24 and n = 12 for the haploids. …”
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Groping for Quantitative Digital 3-D Image Analysis: An Approach to Quantitative Fluorescence In Situ Hybridization in Thick Tissue Sections of Prostate Carcinoma by Karsten Rodenacker, Michaela Aubele, Peter Hutzler, P. S. Umesh Adiga

“…In molecular pathology numerical chromosome aberrations have been found to be decisive for the prognosis of malignancy in tumours. …”
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TLR2 Derangements Likely Play a Significant Role in the Inflammatory Response and Thrombosis in Patients with Ph(−) Classical Myeloproliferative Neoplasm by Jen Chin Wang, Guanfang Shi, Chi Chen, Ching Wong, Vladimir Gotlieb, Gardith Joseph, Kiron V Nair, Lakshmi Boyapati, Enayati Ladan, James T. Symanowski, Lishi Sun

“…We investigated the role of toll-like receptors (TLRs) in inflammatory pathways in Philadelphia chromosome-negative myeloproliferative neoplasms (Ph(−)MPNs). …”
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PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication by Angelika J. Dawson, Janice Cox, Karine Hovanes, Elizabeth Spriggs

“…The proximal region of the long arm of chromosome 15q11.2-q13 is associated with various neurodevelopmental disorders, including Prader-Willi (PWS) and Angelman (AS) syndromes, autism, and other developmental abnormalities resulting from deletions and duplications. …”
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VEIKIANTIS GENOMAS - VISUMINIS POŽYMIS: DABARTIES ŽVILGSNIS Į GENETIKĄ by Jonas Rubikas

“…The five methodological levels of investigation could be distinguished during the course of genetics development: the organism - feature; the cell - feature; the chromosome - feature; DNA molecule - feature; nucleotide sequence - function. …”
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Treatment with Herbal Formula Extract in the hSOD1G93A Mouse Model Attenuates Muscle and Spinal Cord Dysfunction via Anti-Inflammation by Eun Jin Yang, Sun Hwa Lee, Mudan Cai

“…Although this experiment was performed only in male hSOD1G93A mice, studies that investigate the efficacy of HEF in various ALS models including female mice, such as mice modeling TAR DNA-binding protein 43 (TDP43) and ORF 72 on chromosome 9 (C9orf72) ALS, are required before it can be established that HEF are therapeutic candidates for patients with ALS.…”
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Trypanosoma cruzi Infection in Genetically Selected Mouse Lines: Genetic Linkage with Quantitative Trait Locus Controlling Antibody Response by Francisca Vorraro, Wafa H. K. Cabrera, Orlando G. Ribeiro, José Ricardo Jensen, Marcelo De Franco, Olga M. Ibañez, Nancy Starobinas

“…An Ab production QTL marker mapping to mouse chromosome 1 (34.8 cM) significantly cosegregated with survival after acute T. cruzi infections, indicating that this region also harbors genes whose alleles modulate resistance to acute T. cruzi infection.…”
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TOP2A inhibition and its cellular effects related to cell cycle checkpoint adaptation pathway by Maria C. Arroyo López, M. A. Fernández-Mimbrera, E. Gollini, A. Esteve-Codina, A. Sánchez, Juan Alberto Marchal Ortega

“…Abstract In this study, we investigate the G2 checkpoint activated by chromosome entanglements, the so-called Decatenation Checkpoint (DC), which can be activated by TOP2A catalytic inhibition. …”
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Functional genomic insights into Floricoccus penangensis ML061-4 isolated from leaf surface of Assam tea by Patthanasak Rungsirivanich, Elvina Parlindungan, Jennifer Mahony, Witsanu Supandee, Narumol Thongwai, Douwe van Sinderen

“…The complete genome of F. penangensis ML061-4 consists of single chromosome of 2,159,127 base pairs, containing a GC content of 33.2% and encompassing 2049 predicted protein-encoding genes. …”
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Meta-analysis of QTLs associated with popping traits in maize (Zea mays L.). by Sukhdeep Kaur, Sujay Rakshit, Mukesh Choudhary, Abhijit Kumar Das, Ranjeet Ranjan Kumar

“…Total ten metaQTLs were identified on chromosome 1 (7 metaQTLs) and 6 (3 metaQTLs) with physical distance ranging between 0.43 and 12.75 Mb, respectively. …”
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Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants by Amit Singh, Mahak Garg, Mohammed Shariq, Preeti Khetarpal, Inusha Panigrahi

“…Abstract Background Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II) is an autosomal recessive rare genetic condition marked by characteristic clinical symptoms of prenatal and post-natal growth retardation, reduced height, and microcephaly caused by variations in PCNT gene located on chromosome 21q22. Case presentation Four patients of Indian origin with growth deficiency and additional clinical features of MOPDII were recruited from a tertiary health care center and whole exome sequencing was performed on blood samples from these patients. …”
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Recent Advances in the Pathogenesis of Syndromic Autisms by A. Benvenuto, B. Manzi, R. Alessandrelli, C. Galasso, P. Curatolo

“…The PubMed database was searched with the keywords “autism” and “chromosomal abnormalities,” “metabolic diseases,” “susceptibility loci.” …”
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Genome-wide association study and genomic selection of brace root traits related to lodging resistance in maize by Shaohang Lin, Xiaoming Xu, Zehui Fan, Jiale Jiang, Yukang Zeng, Yao Meng, Jiaojiao Ren, Penghao Wu

“…At the threshold of P-value < 7.42 × 10− 6, 22 SNPs distributed on all 10 chromosomes, except for chromosome 7, and 50 candidate genes were identified using the FarmCPU model. …”
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Ribosomes translocation into the spore of Bacillus subtilis is highly organised and requires peptidoglycan rearrangements by Olga Iwańska, Przemysław Latoch, Mariia Kovalenko, Małgorzata Lichocka, Joanna Hołówka, Remigiusz Serwa, Agata Grzybowska, Jolanta Zakrzewska-Czerwińska, Agata L. Starosta

“…During sporulation, the cell undergoes morphological changes including asymmetric division and chromosome translocation into the forespore. However, the fate of translational machinery during sporulation has not been described. …”
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Reorganisation of chromatin during erythroid differentiation by A. A. Khabarova, A. S. Ryzhkova, N. R. Battulin

“…Several levels of DNA packaging have been recently identified using chromosome conformation capture based techniques such a Hi-C. …”
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Restoration of Genetic Code in Macular Mouse Fibroblasts via APOBEC1-Mediated RNA Editing by Sonali Bhakta, Hiroko Kodama, Masakazu Mimaki, Toshifumi Tsukahara

“…Menkes disease is a recessive X-chromosome-linked hereditary syndrome in humans, caused by defective copper metabolism due to mutations in the <i>ATP7A</i> gene, which encodes a copper transport protein. …”
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Ustilago maydis Trf2 ensures genome stability by antagonizing Blm-mediated telomere recombination: Fine-tuning DNA repair factor activity at telomeres through opposing regulations. by Shahrez Syed, Sarah Aloe, Jeanette H Sutherland, William K Holloman, Neal F Lue

“…TRF2 is an essential and conserved double-strand telomere binding protein that stabilizes chromosome ends by suppressing DNA damage response and aberrant DNA repair. …”
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A lethal disease of the European bison – posthitis is conditionally determined by its genomics by Sazia Kunvar, Sylwia Czarnomska, Cino Pertoldi, Astrid V. Stronen, Iwona Ruczyńska, Małgorzata Tokarska

“…We obtained 30 SNP markers that met these requirements, all located on chromosome 25. However, none of the SNPs found in the study was significantly associated with posthitis occurrence after Bonferroni correction. …”
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