Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy by Yolanda Fernández-Perea, Lutgardo García-Díaz, Javier Sánchez, Guillermo Antiñolo, Salud Borrego

“…We report the case of a fetus with isolated CDH diagnosed at 21 weeks of gestation by ultrasound and confirmed by RMI, whose genetic analysis of amniotic fluid cells identified a de novo partial trisomy of the long arm of chromosome 11. Different genetic causes have been associated with CDH. …”
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Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T by Josef Finsterer, Claudia Stöllberger, Matthias Hasun, Korbinian Riedhammer, Mathias Wagner

“…Left ventricular hypertrabeculation/noncompaction is a myocardial abnormality of unknown etiology/pathogenesis, which is frequently associated with neuromuscular disorders or chromosomal defects. LVHT in association with a MYOT mutation has not been reported. …”
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Sleep in Genetically Confirmed Pantothenate Kinase-Associated Neurodegeneration: A Video-Polysomnographic Study by Maria Livia Fantini, Giovanni Cossu, Andrea Molari, Monia Cabinio, Ozlem Uyanik, Roberto Cilia, Maurizio Melis, Angelo Antonini, Luigi Ferini-Strambi

“…A mutation of pantothenate kinase (PANK2) gene localized on chromosome 20p13 has been described in familiar forms, as well as in sporadic patients. …”
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Stably Integrated for Assessment of Invasion Kinetics by Kelly N. Flentie, Min Qi, Seth T. Gammon, Yasmin Razia, Felix Lui, Luciano Marpegan, Aashish Manglik, David Piwnica-Worms, Jeffrey S. McKinney

“…Thus, a nondestructive real-time assay was developed to report eukaryotic cell invasion kinetics using lux+ Salmonella that contain chromosomally integrated luxCDABE genes. Bioluminescence-based invasion assays using lux+ Salmonella exhibited inoculum dose-response correlation, distinguished invasion-competent from invasion-incompetent Salmonella , and discriminated relative Salmonella invasiveness in accordance with environmental conditions that induce invasion gene expression. …”
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Asleep surgery for deep brain stimulation of the globus pallidus internus in pediatric dystonia associated with KMT2B mutation by Chingiz Nurimanov, Karashash Menlibayeva, Seitzhan Aidarov, Iroda Mammadinova, Nurtay Nurakay

“…Genomic sequencing identified a heterozygous mutation in the KMT2B gene (617284 on chromosome 19p13). In this case, DBS of the globus pallidus internus was performed under general anesthesia. …”
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Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism by Deborah Chiabrando, Emanuela Tolosano

“…Interestingly, some DBA patients have disease linkage to chromosome 1q31, where FLVCR1 is mapped. Moreover, it has been reported that cells from DBA patients express alternatively spliced isoforms of FLVCR1 which encode non-functional proteins. …”
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Genetic Basis of Sjögren's Syndrome. How Strong is the Evidence? by Juan-Manuel Anaya, Angélica María Delgado-Vega, John Castiblanco

“…The observed aggregation of AIDs in families of patients with primary SS is nevertheless supportive for a genetic component in its etiology. In the absence of chromosomal regions identified by linkage studies, research has focused on candidate gene approaches (by biological plausibility) rather than on positional approaches. …”
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Transformation of Follicular Lymphoma to Double Hit B-Cell Lymphoma Causing Hypercalcemia in a 69-Year-Old Female: A Case Report and Review of the Literature by Sakshi Kapur, Miles B. Levin

“…Double hit B-cell lymphomas are rare tumors that are defined by a chromosomal breakpoint affecting the MYC/8q24 locus in combination with another recurrent breakpoint, mainly a t(14;18)(q32;q21) involving BCL2. …”
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Minisatellite Isolation and Minisatellite Molecular Marker Development in <i>Citrus limon</i> (L.) Osbeck by Oleg S. Alexandrov, Dmitry V. Romanov

“…The obtained dataset includes sequences of extracted minisatellites and their characteristics (start and end nucleotide positions on the chromosome, length of monomer, number of repetitions and length of array), as well as sequences of developed primers, expected lengths of amplicons, and e-PCR results. …”
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Optimized coverage algorithm of wireless video sensor network based on quantum genetic algorithm by Fu-you FAN, Guo-wu YANG, Qian-qi LE, Feng-mao LV, Chao ZHAO

“…According to the construction needs of the smart city wireless video sensor network,an optimized network coverage algorithm based on quantum genetic algorithm is proposed.The algorithm fits in with complicated monitoring scene which has some different obstacles and different degree of importance.The monitoring region is depicted by two-dimensional discrete grid model,and the discrete grid model is represented by a code description matrix.The directional wireless video sensor is described by a seven-tuples.The mathematical programming model of the coverage problem is obtained by strict mathematical derivation.The optimized coverage algorithm is comprised by IntialDeployment and OptimizedDeployment algorithms,which takes the maximum coverage rate network deployment scheme as the solving goal.The quantum genetic algorithm with reasonable chromosome coding and optimized quantum rotation gate parameter is used to search the solution space,which has a good convergence rate and a fast computation speed.Two limit values of ideal coverage rate and ideal weighted coverage rate are introduced to evaluate the algorithm by the way of relative comparison.The result of simulation experiments and data analyses show that the solutions worked out by the algorithm can well approximate the ideal limit value.When the number of sensor nodes is given,the algorithm can obtain the maximum effective coverage rate.…”
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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. …”
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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. …”
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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. …”
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Analysis of acute lymphoblastic leukemia drug sensitivity by changes in impedance via stromal cell adherence. by Annie Luong, Fabio Cerignoli, Yama Abassi, Nora Heisterkamp, Hisham Abdel-Azim

“…This system was able to discriminate sensitivity of two relapsed Philadelphia chromosome (Ph) positive ALLs to four different targeted kinase inhibitors. …”
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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. …”
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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. …”
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100 Gy 60Co γ-Ray Induced Novel Mutations in Tetraploid Wheat by Chuntao Yang, Jianshu Zhu, Yun Jiang, Xiaolu Wang, Mengxue Gu, Yi Wang, Houyang Kang, Xing Fan, Lina Sha, Haiqin Zhang, Pu Xuan, Yonghong Zhou

“…Two mutant dwarf plants, T. turgidum (As2255) 253-10 and T. polonicum (As302) 224-14, were detected. Abnormal chromosome pairings were observed in pollen mother cells of both T. dicoccoides (As835) 237-9 and T. dicoccoides (As838) 239-8 with HMW-GS 1Ax silent in seeds from them. …”
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The Impact of the Metabolic Syndrome Severity on the Appearance of Primary and Permanent DNA Damage by Mirta Milić, Luka Kazensky, Martina Matovinović

“…Unrepaired damage can lead to DNA base changes, chromosomal mutations, genomic loss and instability, and disrupted gene and protein expression. …”
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Genome Stability Pathways in Head and Neck Cancers by Glenn Jenkins, Kenneth J. O'Byrne, Benedict Panizza, Derek J. Richard

“…Defective DNA repair generates chromosomal derangement that can cause subsequent alterations in gene expression, and is a hallmark of progression toward carcinoma. …”
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Identifcation and fine mapping of qHSW1, a major QTL for hundred-seed weight in mungbean by Xuesong Han, Xuesong Han, Long Zhao, Juan Yu, Xingmin Wang, Shilong Zhang, Li Li, Li Li, Changyan Liu, Changyan Liu

“…Among these, qHSW1 was mapped on chromosome 1 in all four environments, explaining 16.65-26.15% of the phenotypic variation. …”
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