Evolutionary history and phylogeographic relationships of shrews from Sorex araneus group. by Paweł Mackiewicz, Magdalena Moska, Heliodor Wierzbicki, Przemysław Gagat, Dorota Mackiewicz

“…Its evolution was associated with chromosomal rearrangements, which could have promoted fast diversification of this group into many chromosomal races and species. …”
Get full text

Comparative Genomic In Situ Hybridization and the Possible Role of Retroelements in the Karyotypic Evolution of Three Akodontini Species by Naiara Pereira Araújo, Gustavo Campos Silva Kuhn, Flávia Nunes Vieira, Thaís Queiroz Morcatty, Adriano Pereira Paglia, Marta Svartman

“…South American Akodontini rodents are characterized by a large number of chromosome rearrangements. Among them, the genus Akodon has been extensively analyzed with classical and molecular cytogenetics, which allowed the identification of a large number of intra- and interspecific chromosomal variation due to Robertsonian rearrangements, pericentric inversions, and heterochromatin additions/deletions. …”
Get full text

Genome wide association studies on seven yield‐related traits of 183 rice varieties in Bangladesh by Nilanjan Roy, Acramul Haque Kabir, Nourin Zahan, Shahba Tasmiya Mouna, Sakshar Chakravarty, Atif Hasan Rahman, Md. Shamsuzzoha Bayzid

“…Our GWASs reveal various chromosomal regions and candidate genes that are associated with different traits in Bangladeshi rice varieties. …”
Get full text

Assessment of the predictive power the radiation-induced lymphocyte apoptosis method in prostate cancer patients by Gyöngyvér Orsolya Sándor, Gyöngyi Farkas, Gábor Székely, Péter Ágoston, Kliton Jorgo, László Gesztesi, Tibor Major, Csilla Pesznyák, András Herein, Gábor Stelczer, Dalma Mihály, Georgina Fröhlich, Zsolt Jurányi, Zoltán Takácsi-Nagy, Csaba Polgár, Zsuzsa S. Kocsis

“…The negative predictive value for severe urinary side effects according to the IPSS questionnaire was 87.9% at the lower tertile of RILA values. Chromosome aberrations also correlated with side effects, but when we built models including variables of baseline and treatment characteristics of the patients, RILA, and chromosome aberrations, only RILA predicted a late increase in IPSS score (p < 0.0001, adjusted R2 = 68%). …”
Get full text

15q23 Gain in a Neonate with a Giant Omphalocele and Multiple Co-Occurring Anomalies by Hui-Fang Zhou, Christopher J. O’Conor, Chiraag Gangahar, Louis P. Dehner

“…Data have shown that omphalocele with co-occurring genetic abnormality has worse prognosis than isolated omphalocele. Chromosomal analysis by a conventional technique such as karyotyping can only detect aneuploidy and large segmental duplication or deletion. …”
Get full text

Tissue-specific resistance and susceptibility to the tomato brown rugose fruit virus (ToBRFV) conferred by Solanum pennellii loci by Edan Rochsar, Shai Torgeman, Kfir Bandel, Amnon Koren, Chen Klap, Aviv Dombrovsky, Dani Zamir

“…Another locus for resistance was mapped to chromosome 3, which protected the terminal and axillary shoots of the TOP BILs only. …”
Get full text

Early Morphokinetic Monitoring of Embryos after Intracytoplasmic Sperm Injection with Fresh Ejaculate Sperm in Nonmosaic Klinefelter Syndrome: A Different Presentation by Ali Sami Gurbuz, Ahmet Salvarci, Necati Ozcimen, Ayse Gul Zamani

“…Biopsies were performed on six embryos on the 3rd day, and numerical chromosomal abnormalities were observed using the FISH test before transfer. …”
Get full text

Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations by Nirmala D. Sirisena, U. Kalpani S. Wijetunge, Ramya de Silva, Vajira H. W. Dissanayake

“…Cytogenetic studies confirmed terminal deletion of the short arm of chromosome 9 distal to band p22 [46,XY,del(9)(p22→pter)]. …”
Get full text

Evolutionary and functional divergence of Sfx, a plasmid-encoded H-NS homolog, underlies the regulation of IncX plasmid conjugation by Avril Wang, Martha Cordova, William Wiley Navarre

“…We additionally show that Sfx can physically interact with various chromosomally encoded proteins, including H-NS, StpA, and Hha. …”
Get full text

Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1... by A. A. Kashevarova, M. E. Lopatkina, O. Yu. Vasilyeva, D. A. Fedotov, A. D. Lobanov, E. A. Fonova, I. Z. Zhalsanova, A. A. Zarubin, O. A. Salyukova, E. O. Belyaeva, V. V. Petrova, E. G. Ravzhaeva, A. A. Agafonova, A. D. Cheremnykh, N. B. Torkhova, S. L. Vovk, I. N. Lebedev

“…ABSTRACT Background Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype. …”
Get full text

Giant Warty Nevus with Cavernous Angioma Component. Case Presentation by María del Rosario Sánchez Hidalgo, Idalmis Valdés Madrigal, Eduardo Carlos Borges Sánchez

“…It is considered a hamartoma derived from the ectoderm, possibly caused by a chromosomal aberration located on the long arm of chromosome 1.The case of a 3 year-old male patient is presented, with a giant warty nevus with an angioma cavernous component in the occipital region, without other anomalies. …”
Get full text

The role of HEPCAM in Jacobsen syndrome: A pediatric case report highlighting white matter abnormalities by Ghazaleh Ghorbannezhad, Reza Nejad Shahrokh Abadi, Farrokh Seilanian Toosi, Shima Shekari, Saeedeh Sadat Mirtooni, Narges Hashemi

“…Furthermore, deletion mutations in the long arm of chromosome 11 can also give rise to Megalocephalic Leukoencephalopathy (MLC), affecting the HEPCAM gene. …”
Get full text

BLINATUMOMAB IN THE THERAPY OF ACUTE B-LYMPHOID LEUKEMIA by Ugo Testa, Elvira Pelosi, Germana Castelli, Patrizia Chiusolo

“…Furthermore, recent studies in newly diagnosed B-ALL patients have led in Philadelphia chromosome-positive patients to the development of chemotherapy-free regimens based on tyrosine kinase inhibitors plus Blinatumomab and in Philadelphia chromosome-negative patients to improvement in outcomes using chemotherapy regimens that have incorporated Blinatumomab in the consolidation phase of treatment. …”
Get full text

Flavonoid-Deficient Mutants in Grass Pea (Lathyrus sativus L.): Genetic Control, Linkage Relationships, and Mapping with Aconitase and S-Nitrosoglutathione Reductase Isozyme Loci by Dibyendu Talukdar

“…Linkage studies and primary trisomic analysis mapped Aco 1 and fld 1 loci on extra chromosome of trisomic-I and Aco 2, fld 2, and Gsnor 2 on extra chromosome of trisomic-IV in linked associations.…”
Get full text

Cystic Hygroma and Monosomy X by Aykut Özek, Mert Turğal, Özgür Özyüncü, Sinan Beksaç

“…They are associated with chromosomal abnormalities and major structural anomalies. …”
Get full text

Detection of genomic loci associated with days to heading in tropical japonica rice through QTL-seq by Khairul Yusuf Nasution, Dani Satyawan, Muhamad Yunus, Azri Kusuma Dewi, Puput Melati, Marina Yuniawati Maryono, Ita Dwimahyani, Wening Enggarini, Sobrizal

“…Whole genome sequencing (WGS) derived single nucleotide polymorphism (SNP) from early and late-heading bulks were used to identify three candidate regions with strong association to DTH: qDTH3.1 and qDTH3.2 on chromosome 3, and qDTH7.1 on chromosome 7, with the latter linked to the Oryza sativa Pseudo-Response Regulator 37 (OsPRR37) gene. …”
Get full text

Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing by Xingwu Wu, Qiang Xu, Ge Chen, Jialyv Huang, Yanying Zhong, Lifeng Tian, Qiongfang Wu, Jia Chen

“…The precise karyotype and location of chromosomal breakpoints in the patient and family members were determined through PCR. …”
Get full text

A genome-wide association study identifies genetic variants associated with hip pain in the UK Biobank cohort (N = 221,127) by Qi Pan, Yiwen Tao, Tengda Cai, Abi Veluchamy, Harry L. Hebert, Peixi Zhu, Mainul Haque, Tania Dottorini, Lesley A. Colvin, Blair H. Smith, Weihua Meng

“…Sex-stratified GWAS analyses revealed a unique locus within the CUL1 gene (rs4726995, p = 2.56 × 10–9) in males, and three unique loci in females: rs1651359966 on chromosome 7 (p = 1.15 × 10–8), rs552965738 on chromosome 9 (p = 2.72 × 10–8), and rs1978969 on chromosome 13 (p = 2.87 × 10–9). …”
Get full text

Influence of human peripheral blood samples preprocessing on the quality of Hi-C libraries by M. M. Gridina, E. Vesna, M. E. Minzhenkova, N. V. Shilova, O. P. Ryzhkova, L. P. Nazarenko, E. O. Belyaeva, I. N. Lebedev, V. S. Fishman

“…The use of the Hi-C method for the detection of chromosomal rearrangements is becoming more widespread. …”
Get full text

Genetic Characteristics of the Rat Fibroblast Cell Line Rat-1 by Thomas Liehr, Stefanie Kankel, Eva Miriam Buhl, Sarah K. Schröder-Lange, Ralf Weiskirchen

“…Interestingly, the chromosomal imbalances found in Rat-1 cells resemble those found in human epithelioid sarcoma or liposarcoma. …”
Get full text