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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Grey Zone Lymphomas: Lymphomas with Intermediate Features by Sylvia Hoeller, Christiane Copie-Bergman

“…The current classification of lymphoid neoplasms is based on clinical information, morphology, immunophenotype, and molecular genetic characteristics. Despite technical and scientific progress, some aggressive B-cell lymphomas with features overlapping between two different types of lymphomas remain difficult to classify. …”
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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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Detection of genetic determinants of potentially oncogenic representatives of the intestinal microbiota as biomarkers of colorectal cancer by Viktoriya N. Shumilova, Artemij E. Goncharov, Daniil V. Azarov, Stanislav I. Sitkin, Elgudzha L. Latariya, Batyrbek I. Aslanov, Mikhail A. Bobrakov, Rustem E. Topuzov

“…The results obtained support the possibility of using molecular genetic detection of the studied potentially oncogenic microorganisms as a method for non-invasive diagnosis of CRC.…”
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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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The Current Status and Advance in Treatment of Glycogen Storage Disease Type Ⅰb by JIANG Jingjing, MA Mingsheng

“…This article summarizes the current research status of diagnosis and screening, molecular genetic mechanisms, and treatment of GSD Ⅰb. …”
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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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Study of the association of polymorphisms of the folate cycle enzyme gene with the degree of cognitive and affective disorders in patients in the post-covid period by A.A. Shuprovych, O.V. Zinych, N.M. Kushnareva, O.M. Trofymenko, K.P. Komisarenko

“…Recently, molecular genetic studies have become widespread, and demonstrated the importance of DNA and histone methylation processes in the epigenetic regulation of gene expression. …”
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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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Primary exocrine pancreatic insufficiency in children (a clinical case of Shwachman-Diamond syndrome) by V.S. Berezenko, Yu.I. Proshchenko, Kh.Z. Mykhayluk, M.B. Dyba, O.M. Tkalik, Yu.O. Savenko

“…The diagnosis is made in the presence of a characteristic combination of exocrine pancreatic function disorders, hematologic manifestations (neutropenia, thrombocytopenia, anemia), skeletal abnormalities and is confirmed by molecular genetic testing (mutation in the SBDS gene, which is localized on 7q or 11 and inversion of the 9th chromosome pair). …”
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Role of ARMS2/HTRA1 risk alleles in the pathogenesis of neovascular age-related macular degeneration by Yang Pan, Takeshi Iwata

“…In this comprehensive review, we provide an overview of the role played by ARMS2/HTRA1 risk alleles in neovascular AMD pathogenesis, covering GWAS, in vitro studies, and animal models, shedding light on their underlying molecular genetic mechanisms. Further extensive research is also imperative, including confirmation of these findings, identifying novel treatment targets, and advancing primary and secondary prevention strategies for AMD.…”
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Case Report: Diagnosis and treatment of incontinentia pigmenti with central nervous system anomalies in one patient by Yun Li, Junbin Hong, Shangge Xu, Tong Zhou, Xiaolan Xiao, Jinghua Yang, Yiting Chen

“…Skin biopsy pathology indicated pigmentation disorder. Molecular genetic testing was conducted to identify IKBKG mutations, and the case was finally diagnosed with incontinentia pigmenti complicated by central nervous system anomalies. …”
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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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