Prader-Willi syndrome protein necdin regulates the nucleocytoplasmic distribution and dopaminergic neuron development by Xin Li, Yichun Zhang, Ying Hu, Xiangrong Tang, Zishan Gong, Ren-bin Lu, Jia-da Li

“…In this study, we found an interaction between THOC5 and necdin, which is encoded by a gene located in the chromosome deletion region of Prader-Willi syndrome (PWS), by using a yeast two-hybrid assay. …”
Get full text

Prenatal Diagnosis of 45,X/46,XX Mosaicism with Presence of SRY Gene. A Case Report by Pedro Alí Díaz-Véliz Jiménez, María Antonia Ocaña Gil, Leydi María Sosa Águila, Belkis Vidal Hernández

“…This article presents the results of a prenatal diagnosis of this rare chromosomal aberration.…”
Get full text

Leydig Cell Tumor in a Patient with 46,XX Disorder of Sex Development (DSD), Ovotesticular: A Case Report and a Review of the Literature by Steffen Gretser, Maria-Noemi Welte, Frederik Roos, Jens Köllermann

“…Disorder of sex development (DSD) is a rare condition with atypical development of chromosomal, gonadal, or anatomical sex. It is classified in different subgroups based on the patient’s karyotype, gonadal dysgenesis, and the appearance of the internal and external genitalia. …”
Get full text

Anomalous Coronary Artery Origin in a Young Patient with Marfan Syndrome by S. B. C. P. Duarte, D. O. Beraldo, L. A. M. Cesar, A. P. Mansur, J. Y. Takada

“…Marfan syndrome is an autosomal dominant genetic disorder that affects connective tissue and is caused by mutations in the fibrillin 1 gene present at chromosome 15. Aortic aneurysm is its main complication, and along the dilation of the aorta root and its descending portion (60–100%), with secondary aortic insufficiency, it increases risk of acute aortic dissection and death. …”
Get full text

A new efficient genetic algorithm-Taguchi-based approach for multi-period inventory routing problem by Amin Farahbakhsh, Amir Saman Kheirkhah

“…To represent solutions for this problem, we introduce a new chromosomal structure. This structure offers simplicity in encoding and decoding solutions, maintains feasibility after crossover and mutation operations, addresses both routing and inventory management in a single step, and consolidates information about each solution method comprehensively. …”
Get full text

HCV and Lymphoproliferation by Anna Linda Zignego, Carlo Giannini, Laura Gragnani

“…These hypotheses have variously emphasized the important role played by sustained stimulation of the immune system by HCV, infection of the lymphatic cells, viral proteins, chromosomal aberrations, cytokines, or microRNA molecules. …”
Get full text

Bladder Leiomyoma with Synchronous Solitary Fibrous Tumor of the Pleura by Charalampos Mavridis, George Georgiadis, Eleni D. Lagoudaki, Iordanis Skamagkas, Ioannis Heretis, Anastasios V. Koutsopoulos, Charalampos Mamoulakis

“…The exact pathophysiological mechanisms that lead to their appearance remain unclear including hormonal disorders, chromosomal abnormalities, and fetal remnants in the bladder. …”
Get full text

Insulinoma Presenting with Long-Standing Depression, Primary Hypogonadism, and Sertoli Cell Only Syndrome by Usman H. Malabu, Durgesh Gowda, Yong Mong Tan

“…He was diagnosed with primary gonadal failure and physical examination showed no evidence of dysmorphic features. Chromosomal analysis revealed normal 46 XY and testicular biopsy showed Sertoli cell only syndrome (SCOS). …”
Get full text

ATX-2, the C. elegans Ortholog of Human Ataxin-2, Regulates Centrosome Size and Microtubule Dynamics. by Michael D Stubenvoll, Jeffrey C Medley, Miranda Irwin, Mi Hye Song

“…As cells progress to mitosis, centrosomes recruit more microtubules (MT) to form mitotic bipolar spindles that ensure proper chromosome segregation. We report a new role for ATX-2, a C. elegans ortholog of Human Ataxin-2, in regulating centrosome size and MT dynamics. …”
Get full text

Expression of Four Methionine Sulfoxide Reductases in Staphylococcus aureus by Kuldeep Singh, Vineet K. Singh

“…To determine the expression pattern of msr genes, three independent reporter strains were constructed where msr promoter was cloned in front of a promoterless lacZ and the resulting construct was integrated in the chromosome. Using these strains, it was determined that the msrA1/B expression is significantly higher in S. aureus compared to msrA2 or msrA3. …”
Get full text

Non-autonomous insulin signaling delays mitotic progression in C. elegans germline stem and progenitor cells. by Eric Cheng, Ran Lu, Abigail R Gerhold

“…How these cells ensure proper chromosome segregation, and thereby maintain mitotic fidelity, in the complex physiological environment of a living animal is poorly understood. …”
Get full text

Photochemical and photobiological properties of furocoumarins and homologues drugs by F. Bordin

“…Both compounds are very active; however while FQ produced many chromosomal aberrations and strong skin erythemas, HFQ practically did not induce such side effects. …”
Get full text

Androgen receptor dynamics in prostate cancer: from disease progression to treatment resistance by Caihong Li, Dongkai Cheng, Peng Li

“…The androgen receptor (AR) on the X chromosome is a central driver in this process, activating genes that govern proliferation and survival. …”
Get full text

Characterization of Staphylococcus aureus Strains Isolated from Veterinary Hospital by Ariel E. Stella, Thaís F. Lima, Cecília N. Moreira, Eric M. N. De Paula

“…Methicillin resistance is determined by a chromosomal gene (mecA), which codes for modifications in the beta-lactam antibiotic receptor, where the penicillin-binding protein will have a low affinity for the antibiotic. …”
Get full text

A rapid change in virulence gene expression during the transition from the intestinal lumen into tissue promotes systemic dissemination of Salmonella. by Sebastian E Winter, Maria G Winter, Ivan Godinez, Hee-Jeong Yang, Holger Rüssmann, Helene L Andrews-Polymenis, Andreas J Bäumler

“…To study the consequences of acquiring a new regulator by horizontal gene transfer, tviA was introduced into the chromosome of S. enterica serotype Typhimurium, a closely related pathogen causing a localized gastrointestinal infection in immunocompetent individuals. …”
Get full text

The Family After the Prenatal Death of a Child. Theological and Moral Aspects by Jan Dziedzic

“…Miscarriage is most often due to a chromosomal abnormality (approximately 60–80% of cases) or other embryo/ foetal problems and is rarely based on choices made by women. …”
Get full text

Genetic Alterations in Presumptive Precursor Lesions of Breast Carcinomas by Michaela Aubele, Martin Werner, Heinz Höfler

“…In IDH lesions loss of heterozygosity (LOH) at various loci could be identified, and comparative genomic hybridization (CGH) and fluorescence in situhybridization (FISH) studies delivered evidence for DNA amplification on chromosomal region 20q13 in the early stage of IDH. …”
Get full text

Rare Suprasellar Chordoid Meningioma with INI1 Gene Mutation by Imad Fadl-Elmula, Rania Giha, Sawsan AH Deaf, Lamyaa Ahmed El Hassan, Ahmed M. Hassan, Mohamed AR Arbab

“…Background: Chordoid Meningioma is a rare brain tumour characterized genetically by loss of genetic material from chromosome 22q at cytogenetic level resulting in mutation of NF2 gene. …”
Get full text

Fluo-Cast-Bright: a deep learning pipeline for the non-invasive prediction of chromatin structure and developmental potential in live oocytes by Xiangyu Zhang, Claudia Baumann, Rabindranath De La Fuente

“…Abstract In mammalian oocytes, large-scale chromatin organization regulates transcription, nuclear architecture, and maintenance of chromosome stability in preparation for meiosis onset. …”
Get full text

The dependence of shugoshin on Bub1-kinase activity is dispensable for the maintenance of spindle assembly checkpoint response in Cryptococcus neoformans. by Satya Dev Polisetty, Krishna Bhat, Kuladeep Das, Ivan Clark, Kevin G Hardwick, Kaustuv Sanyal

“…During chromosome segregation, the spindle assembly checkpoint (SAC) detects errors in kinetochore-microtubule attachments. …”
Get full text