Biochemical and Clinical Features of Insulinoma in a Patient with Turner Syndrome by Darius A. Schneider, M. Zare, F. Behnia, M. Matesan, T. Tylee

“…., mosaic or nonmosaic states with only one normal X chromosome in females, is characterized by a wide spectrum of somatic, hormonal, and metabolic features. …”
Get full text

Comprehensive genome annotation of Trilocha varians, a new model species of Lepidopteran insects by Jung Lee, Toshiaki Fujimoto, Katsushi Yamaguchi, Shuji Shigenobu, Ken Sahara, Toru Shimada

“…To facilitate further use of T. varians, we developed genome annotation information on the chromosome-scale assembly of T. varians previously published by our group. 9 RNA-seq datasets and 2 Iso-seq datasets were submitted for transcriptome-based gene prediction. …”
Get full text

From Abnormal Hippocampal Synaptic Plasticity in Down Syndrome Mouse Models to Cognitive Disability in Down Syndrome by Nathan Cramer, Zygmunt Galdzicki

“…Down syndrome (DS) is caused by the overexpression of genes on triplicated regions of human chromosome 21 (Hsa21). While the resulting physiological and behavioral phenotypes vary in their penetrance and severity, all individuals with DS have variable but significant levels of cognitive disability. …”
Get full text

Exploring effector protein dynamics and natural fungicidal potential in rice blast pathogen Magnaporthe oryzae. by Jannatul Ferdousy, Tanjin Barketullah Robin, Mst Sanjida Nasrin, Istiak Ahmed, Tawsif Hossain, Md Mehedi Hasan, Mehrab Hassan Soaeb, Md Ahsanul Tamim, Nusrat Jahan Yeasmin, Ummay Habiba, Nadim Ahmed, Nurul Amin Rani, Md Shishir Bhuyian, Suvarna N Vakare, Abu Tayab Moin, Rajesh B Patil, Mohammad Shahadat Hossain

“…These effector proteins interact with specific alleles of the Pik gene family on rice chromosome 11, modulating the host's immune response. …”
Get full text

Recent Insights into Antibiotic Resistance in Helicobacter pylori Eradication by Wenming Wu, Yunsheng Yang, Gang Sun

“…Many factors have been implicated as causes of treatment failure, but the main antibiotic resistance mechanisms described to date are due to point mutations on the bacterial chromosome, a consequence of a significantly phenotypic variation in H. pylori. …”
Get full text

Whole-Genome Sequencing Revealed a Late-Maturing Isogenic Rice Koshihikari Integrated with Hd16 Gene Derived from an Ise Shrine Mutant by Motonori Tomita, Ryotaro Tokuyama, Shosuke Matsumoto, Kazuo Ishii

“…Next, the linkage relationship of a single late-maturing gene with the SSR markers on the long arm of chromosome 3 was inferred by using late-maturing homozygous F2 segregants. …”
Get full text

An updated reference genome of Barbatula barbatula (Linnaeus, 1758) by Levente Laczkó, Nikoletta Andrea Nagy, Ágnes Nagy, Ágnes Maroda, Péter Sály

“…We used the species’ available chromosome scaffolds to finish the genome. The final assembly had a BUSCO score of 96.7%. …”
Get full text

Crown Gall Induced by a Natural Isolate of <i>Brucella</i> (<i>Ochrobactrum</i>) <i>pseudogrignonense</i> Containing a Tumor-Inducing Plasmid by Marjolein J. G. Hooykaas, Paul J. J. Hooykaas

“…Whole-genome sequencing revealed that this bacterium contained three large DNA circles with rRNA and tRNA genes, representing one chromosome and two chromids, respectively, and two megaplasmids, including a Ti plasmid. …”
Get full text

Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis by Lamidi Audu, Amina Gambo, Tokan Silas Baduku, Bilkisu Farouk, Anisa Yahaya, Kefas Jacob

“…Thanatophoric dysplasia (TD) is a rare but uniformly lethal inherited disorder of the skeletal system resulting from defects in the fibroblast growth factor receptor-3 gene on the short arm of chromosome ##4. It is characterised by pronounced shortening of the tubular bones resulting in significant short stature, macrocephaly, a funnel-shaped chest, protuberant abdomen, redundant skin in the limbs, and typical facies among others. …”
Get full text

Early growth response 1 transcription factor and its context-dependent functions in glioblastoma by Saleh Rasras, Esma’il Akade, Seyed Ehsan Mohammadianinejad, Maedeh Barahman, Mohammad Bahadoram

“…Despite its oncogenic functions, EGR1 can also suppress tumours by upregulating non-steroidal anti-inflammatory drug-activated gene 1 and phosphatase and tensin homolog deleted on chromosome ten, and inhibiting invasion and metastasis. …”
Get full text

Dental Treatment of a Child with Pallister-Killian Syndrome by Serhan Didinen, Didem Atabek, Gülay Kip, Aslı Patır Münevveroğlu, Özlem Tulunoğlu

“…PKS is a multiple congenital anomaly deficit syndrome caused by mosaic tissue limited tetrasomy for chromosome 12p. The presented report is the first confirmed case with PKS in Turkey. …”
Get full text

EFFECT OF ALIEN GENOMIC INTROGRESSIONS ON THE OSMOTIC TOLERANCE OF WHEAT by R. S. Yudina, I. N. Leonova, E. A. Salina, E. K. Khlestkina

“…In particular, it was shown that the presence of the T6BS· 6BL-6SL translocation from the Ae. speltoides genome in bread wheat might increase its drought resistance, whereas the presence of a T. timopheevii introgression in chromosome 2A, on the contrary, reduced the resistance of wheat to osmotic stress. …”
Get full text

Prader-Willi Syndrome: Clinical Aspects by Grechi Elena, Cammarata Bruna, Mariani Benedetta, Di Candia Stefania, Chiumello Giuseppe

“…The syndrome is due to the loss of expression of several genes encoded on the proximal long arm of chromosome 15 (15q11.2–q13). The complex phenotype is most probably caused by a hypothalamic dysfunction that is responsible for hormonal dysfunctions and for absence of the sense of satiety. …”
Get full text

Interspecific incompatibility in wide hybridization of plants and ways to overcome by L. A. Pershina, N. V. Trubacheeva

“…Early stages of the postzygotic period are crucial for developing hybrid seeds due to embryo’s death, including those associated with uniparental chromosome elimination in hybrid cells and abnormal development of the endosperm. …”
Get full text

Burkitt Lymphoma Presenting as Unilateral Deafness in an Immunocompetent Patient by Andre Pinto, Offiong Francis Ikpatt, Jennifer Chapman-Fredericks

“…Routine karyotype as well as FISH analysis of bone marrow cells demonstrated rearrangement of the MYC gene at chromosome 8q24 region, IGH/MYC fusion, and additional signal for IGH gene. …”
Get full text

Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia by Jennifer L. Flint, Jill D. Jacobson

“…Sequencing of the DAX1 gene (named for dosage-sensitive sex reversal (DSS) locus and the AHC locus on the X chromosome) revealed a missense mutation. A review of the literature revealed that elevated 11-deoxycortisol levels have been noted in kindreds with DAX1 mutations, but only when measured very early in life. …”
Get full text

A Hybrid Approach of Using Wavelets and Fuzzy Clustering for Classifying Multispectral Florescence In Situ Hybridization Images by Yu-Ping Wang, Ashok Kumar Dandpat

“…Multicolor or multiplex fluorescence in situ hybridization (M-FISH) imaging is a recently developed molecular cytogenetic diagnosis technique for rapid visualization of genomic aberrations at the chromosomal level. By the simultaneous use of all 24 human chromosome painting probes, M-FISH imaging facilitates precise identification of complex chromosomal rearrangements that are responsible for cancers and genetic diseases. …”
Get full text

The History of Methicillin-Resistant Staphylococcus aureus in Brazil by Mariana Moreira Andrade, Wilson Barros Luiz, Rayane da Silva Oliveira Souza, Jaime Henrique Amorim

“…In this review, we present the main events which compose the history of MRSA in Brazil, including numbers and locations of isolation, as well as types of staphylococcal cassette chromosome mec (SCCmec) found in the Brazilian territory.…”
Get full text

A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening by Melissa A. Hicks, Emilie Lalonde, Jessica Zoladz, Bernard Gonik, Salah Ebrahim

“…Concurrent microduplication and microdeletion of the chromosome 22q11.2 region are a rarely reported phenomenon. …”
Get full text

Molecular mechanisms of autism as a form of synaptic dysfunction by E. A. Trifonova, T. M. Khlebodarova, N. E. Gruntenko

“…Deregulation of the local translation in dendrites is connected with the following monogenic autism spectrum disorders: neurofibromatosis type 1, Noonan syndrome, Costello syndrome, Cowden syndrome, tuberous sclerosis, fragile X chromosome, syndrome, and Rett syndrome. The review considers the most important mutations leading to monogenic autism, as well as the possibility of a mechanism-based treatment of certain disorders of the autism spectrum.…”
Get full text