A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome by Pamela Rodríguez, Karla Asturias

“…It is caused by genetic variations in the chromatin regulator genes, most commonly, the cohesin complex. Even though molecular genetic testing is highly recommended to confirm the diagnosis, high costs and unavailability in some settings are significant setbacks, and clinical criteria could be used. …”
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Effects of Calcium Ion, Calpains, and Calcium Channel Blockers on Retinitis Pigmentosa by Mitsuru Nakazawa

“…Recent advances in molecular genetic studies have revealed many of the causative genes of retinitis pigmentosa (RP). …”
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Nephronophthisis: A Genetically Diverse Ciliopathy by Roslyn J. Simms, Ann Marie Hynes, Lorraine Eley, John A. Sayer

“…The most frequent extrarenal association is retinal degeneration, leading to blindness. Increasingly, molecular genetic testing is being utilised to diagnose NPHP and avoid the need for a renal biopsy. …”
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Polymorphism of the LCT gene regulatory region in Turkicspeaking populations of the Altay-Sayan region (southern Siberia) by I. V. Pilipenko, M. S. Pristyazhnyuk, V. F. Kobzev, M. I. Voevoda, A. S. Pilipenko

“…Ascertainment of the molecular-genetic causes of lactase persistence has made this trait one of the most convenient for studying mechanisms of human population adaptation to environmental conditions. …”
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Expressed Sequence Tags Analysis and Design of Simple Sequence Repeats Markers from a Full-Length cDNA Library in Perilla frutescens (L.) by Eun Soo Seong, Ji Hye Yoo, Jae Hoo Choi, Chang Heum Kim, Mi Ran Jeon, Byeong Ju Kang, Jae Geun Lee, Seon Kang Choi, Bimal Kumar Ghimire, Chang Yeon Yu

“…This study is the first to report comparative genomics and EST-SSR markers from P. frutescens will help gene discovery and provide an important source for functional genomics and molecular genetic research in this interesting medicinal plant.…”
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ANALYSIS OF A GENETIC COLLECTION OF TOMATO CULTIVARS AND HYBRID FORMS FOR RESISTANCE TO LEAF MOLD USING DNA MARKERS by I. N. Shamshin, M. V. Maslova, Y. V. Gryazneva

“…A strong lesion was noted on the leaves of only one hybrid. The molecular genetic analysis has shown that among all control samples, only this genotype was a recessive homozygote. …”
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SSR loci potentially associated with high amylopectine content in maize kernel endosperm by S. I. Vakula, O. A. Orlovskaya, L. V. Khotyleva, A. V. Kilchevsky

“…To this end, a complex of biochemical (calorimetry, bichromate method), molecular-genetic (SSR-PCR, capillary gel electrophoresis with fluorescent detection of fragments) and statistical (descriptive statistics, cluster analysis, χ2) analysis methods was used. …”
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Advances in personalized gastroenterology and hepatology 2016 by E. Blum Hubert

“…Based on modern molecular, genetic, epigenetic microbiologic and biochemical analyses it is, on the one hand, possible to identify disease-related point mutations and single nucleotide polymorphisms in the context of genomewide association analyses (GWAS). …”
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Natural selection and evolution: evolving concepts by Andre J. van Wijnen, Eric Lewallen

“…Current evolutionary models incorporate different adaptive and non-adaptive processes based on molecular genetic changes and how DNA is modified over time in unicellular species, or in germline versus somatic cells in metazoan species. …”
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Hereditary colorectal cancer: genetics and screening diagnostics by O. I. Kit, D. I. Vodolazhsky, Yu. A. Gevorkyan, N. V. Soldatkina, F. N. Grechkin, M. A. Kozhushko, I. Yu. Yefimova

“…Both clinical and molecular genetic investigations of hereditary CRC forms make possible individual comprehensive approach for diagnosis verification, evaluation of cancer risk, early diagnostics, treatment and prevention for decrease of morbidity and mortality.…”
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INTESTINAL MICROBIOME - A LEADING FACTOR IN HUMAN HEALTH AND DISEASES by E. Blum Hubert

“…Based on modern molecular, genetic, epigenetic microbiologic and biochemical studies it is, on the one hand, possible to identify disease-related point mutations and single nucleotide polymorphisms within genome-wide association analyses (GWAS). …”
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TSP-1-1223 A/G Polymorphism as a Potential Predictor of the Recurrence Risk of Bladder Cancer in a Chinese Population by Xiao Yang, Pengchao Li, Xuejian Yang, Chao Qin, Qiang Cao, Zhengdong Zhang, Meilin Wang, Hongzhou Cai, Jinbao Gu, Jun Tao, Min Gu, Qiang Lu, Changjun Yin

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The Role of the PAX8/PPARγ Fusion Oncogene in Thyroid Cancer by Kimberly A. Placzkowski, Honey V. Reddi, Stefan K. G. Grebe, Norman L. Eberhardt, Bryan McIver

“…While substantial advances have been made in recent years about the molecular genetic events underlying papillary thyroid cancer, the more aggressive follicular thyroid cancer remains poorly understood. …”
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Tat-fimbriae (“tafi”): An unusual type of haloarchaeal surface structure depending on the twin-arginine translocation pathway by Anna V. Galeva, Dahe Zhao, Alexey S. Syutkin, Marina Yu Topilina, Sergei Yu Shchyogolev, Elena Yu Pavlova, Olga M. Selivanova, Igor I. Kireev, Alexey K. Surin, Gennady L. Burygin, Jingfang Liu, Hua Xiang, Mikhail G. Pyatibratov

“…In the haloarchaeon Haloarcula hispanica, we have discovered a thin filamentous surface appendage called tat-fimbriae (''tafi''), which were identified to be composed of three protein subunits, TafA, TafC, and TafE, among which TafA is the major fimbrial subunit. Molecular genetic evidence demonstrates TafA was transported through the twin-arginine translocation pathway (Tat-pathway). …”
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Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy by Hooi Ling Teoh, Kate Carey, Hugo Sampaio, David Mowat, Tony Roscioli, Michelle Farrar

“…This has reinforced the clinical phenotyping and molecular genetic expertise required to navigate the complexities of such diagnoses. …”
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An integrative approach to the delimitation of pseudocryptic species in the Eucyclops speratus complex (Copepoda, Cyclopoida) with a description of a new species by Aleksandr Novikov, Dayana Sharafutdinova, Ekaterina Abramova, Tatyana Mayor, Elena Chertoprud

“…Eucyclops speratus (Lilljeborg, 1901) (Copepoda, Cyclopoida, Cyclopidae) was studied using various methods. Molecular genetic methods (comparison of COI and ITSn molecular markers) have shown that this species represents a species complex, and the following methods were used to search for differences between the species: analysis of qualitative and quantitative characters, linear morphometrics, landmark-based geometric morphometrics, and integumental pore pattern of the cephalothorax. …”
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University proceedings. Volga region. Natural sciences by O.V. Chernyshova, N.A. Kartavov, R.A. Ilyin, S.V. Titov

“…The purpose of the work was to study individuals of speckled (Spermophilus suslicus Guld.) and large (S. major Pall.) ground squirrels from the sympatric zone in the Volga region using a complex of molecular genetic markers, color indicators and acoustic signal parameters in order to identify cases of introgression of foreign DNA. …”

Case Report: Rare cardiovascular characteristics of tuberous sclerosis complex with novel TSC2 variant by Zhiqin Du, Xiao Ma, Xiao Ma, Xiao Ma, Jianhua Li, Fang Yang, Yangfan Guo, Yangfan Guo

“…Our finding emphasizes the importance of considering TSC in individuals presenting with these cardiac features, as well reinforce the critical role of molecular genetic testing in confirming the diagnosis of TSC.…”
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MALT-lymphoma of the stomach: clinical presentation, diagnostics and treatment by Ye. V. Ledin, A. P. Seryakov, V. L. Astashov

“…Despite the extensive data obtained for the last two decades on clinical and pathomorphologic properties of this disease, its molecular genetic features, optimal medical approach for this nosological entity it is not developed yet. …”
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PLANT GENE PROMOTERS RESPONSIVE TO PATHOGEN INVASION by O. G. Smirnova, A. V. Kochetov

“…Infection induces considerable changes at different levels: molecular-genetic, biochemical, physiological, and morphological. …”
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