Polymorphism of monogenic scab resistance loci in apple varieties by A. S. Lyzhin, N. N. Savel’eva

“…The present study shows the results of the molecular genetic analysis of apple varieties, targeted at the Rvi2, Rvi4, Rvi6 and Rvi8 monogenic scab resistance loci.Materials and methods. …”
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A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia by Taishi Fujisawa, Yoshiyasu Aizawa, Yoshinori Katsumata, Akihiro Udo, Shogo Ito, Kazumasa Hatakeyama, Makoto Hirose, Hiroshi Miyama, Kazuaki Nakajima, Takahiko Nishiyama, Takehiro Kimura, Masamitsu Nitta, Kazuo Misumi, Seiji Takatsuki, Kenjiro Kosaki, Keiichi Fukuda

“…An intensive examination could not detect any structural disease, and exercise stress testing provoked polymorphic ventricular ectopy followed by polymorphic ventricular tachycardia accompanied with syncope leading to a diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT). A genetic analysis with a next generation sequencer identified a homozygous W361X mutation in the CASQ2 gene. …”
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Study of resistance to leaf and stem rusts in Triticum aestivum–Aegilops speltoides lines by S. N. Sibikeev, S. A. Voronina, E. D. Badaeva, A. E. Druzhin

“…It allowed the rust resistance genes, efficient against both rust types, to be mapped to a 2D-2S translocation in both lines. Genetic analysis revealed tight linkage of leaf rust resistance genes from Ae. speltoides to gametocidal genes and absence of susceptible plants from the F2 hybrids and subsequent generations. …”
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Parathyroid carcinoma and pheochromocytoma in a patient with neurofibromatosis type 1: a rare association by Jardelina Brena Rocha Leite, Nicole Ramalho De Freitas, Rafaella Nelice de Holanda Cardoso, Erik Trovão Diniz, Gabriel Rodrigues de Assis Ferreira, Fernão Henrique Costa e Alvim, Camila Ribeiro Coutinho Madruga, Ana Carolina Thé Garrido, Luciano Albuquerque, Patricia Sampaio Gadelha, Ruy Lyra, Lucio Vilar

“…Surgical intervention confirmed the presence of pheochromocytoma and parathyroid carcinoma. Genetic analysis corroborated NF1 with a pathogenic variant in the NF1 gene. …”
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Establishment of a Mutant Library for Infection Cushion Development and Identification of a Key Regulatory Gene in <i>Botrytis cinerea</i> by Maoyao Tang, Kexin Wang, Pan Zhang, Jie Hou, Xiaoqian Yu, Hongfu Wang, Yangyizhou Wang, Guihua Li

“…Detailed analyses revealed that these mutants exhibited various degrees of impairment in IC formation, ranging from complete failure to form ICs to a reduction in the number and maturity of ICs. Further genetic analysis of one of the mutants led to the identification of <i>EXO70</i>, a gene encoding a component of the exocyst complex, as a key regulatory factor in IC development. …”
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Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature by Bingzi Dong, Wenshan Lv, Lili Xu, Yuhang Zhao, Xiaofang Sun, Zhongchao Wang, Bingfei Cheng, Zhengju Fu, Yangang Wang

“…Elevated VLCFAs level, brain MRI scan, and genetic analysis confirmed final diagnosis. In addition, we identified two novel mutations of ABCD1 gene, NM_000033.3 (ABCD1): c.874_876delGAG (p.Glu292del) and NM_000033.3 (ABCD1): c.96_97delCT (p.Tyr33Profs∗161), in exon 1 of ABCD1 gene. …”
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Fatal Postpartum Hemorrhage in Diffuse Midline Glioma with H3-K27M Mutation by Takeshi Miyazaki, Masahiro Tsuji, Shinya Hagiwara, Toshiko Minamoto, Noriyoshi Ishikawa, Junko Hirato, Sumihito Nobusawa, Yasuhiko Akiyama

“…Pathological examination suggested diffuse or pilocytic astrocytoma, but subsequent genetic analysis revealed the diagnosis of midline glioma with H3-K27M mutation. …”
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Selection of promising apple genotypes for columnar growth habit and scab resistance using diagnostic DNA markers by N. I. Savel’ev, A. S. Lyzhin, N. N. Savel’eva

“…This paper presents the results of molecular genetic analysis of varieties Valuta, Uspenskoe, Belarusskoe sladkoe and seedlings of the Valuta×Uspenskoe and Valuta×Belarusskoe sladkoe hybrid families for genes controlling columnar growth habit (Co) and scab resistance (Rvi6). …”
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Lodging in wheat: genetic and environmental factors and ways of overcoming by E. V. Ageeva, I. N. Leonova, I. E. Likhenko

“…The content of lignin, silicon and cellulose are important structural components and provide the stem strength of wheat plants. Molecular genetic analysis and mapping of genes and quantitative trait loci are of great importance in identifying the genetic basis of the relationship between the anatomical and morphophysiological characters of the stem and root system and lodging. …”
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Spatial genetic characterization of the red fox (Vulpes vulpes) in the area between the Alps and the Central Dinaric Mountains by A. Devedžić, F. F. Urzi, B. Pokorny, G. Vengušt, D. Ž. Vengušt, F. Janžekovič, L. Velić, T. Eterović, B. K. Stroil, E. Bužan

“…In this study, we used a set of microsatellite markers for the comparative genetic analysis of red fox populations from two countries. …”
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Identification of a Fetal De Novo Splice Variant in ARCN1 Associated With Growth and Skeletal Abnormalities by Wencong He, Zejun Yang, Jianjian Cui, Ruilin Ma, Hui Tao, Yanan Li, Yin Zhao, Yang Pan, Jue Li

“…Prenatal systematic ultrasound detected fetal growth restriction. Genetic analysis identified a novel de novo heterozygous variant within the ARCN1 gene—c.1241+5G>A—located in intron 8. …”
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X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability by Verhoeven WM, Pfundt R, Engelke UF, Kluijtmans LA, Egger JI

“…Lack of TMLH enzyme activity is associated with developmental delay and autistic behaviours described as X-linked recessive autism, type 6 (OMIM&num;300872).Patient and Methods: Here, an institutionalized adult male patient with intellectual disability, autism, and challenging behaviours is presented in whom genetic analysis disclosed a novel pathogenic variant in the TMLHE gene. …”
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Discovery of a novel Mediterranean Haemaphysalis (Ornithophysalis) doenitzi group tick species infesting Falco eleonorae on Antikythira Island, Greece by Lidia Chitimia-Dobler, Christos Barboutis, Anastasios Bounas, Christina Kassara, Ben J. Mans, Anastasios Saratsis, Ala Tabor

“…Following comprehensive morphological assessment and genetic analysis of the mitochondrial genome by means of next-generation sequencing of both adult and nymphal stages of the ticks, our empirical findings substantiate the delineation of a previously unclassified species. …”
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Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies by Sanem Eren Akarcan, Ezgi Ulusoy Severcan, Neslihan Edeer Karaca, Esra Isik, Guzide Aksu, Mélanie Migaud, Ferda Evin Gurkan, Elif Azarsiz, Anne Puel, Jean-Laurent Casanova, Necil Kutukculer

“…Chronic-recurrent infections with different pathogens leading to significant morbidity suggested combined immunodeficiency, CMC, or Mendelian susceptibility to mycobacterial diseases. Genetic analysis revealed a predefined heterozygous gain-of-function mutation (GOF) (c.1154 C>T, p.Thr385Met) in the gene coding STAT1 molecule. …”
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Metabarcoding the night sky: Monitoring landscape-scale insect diversity through bat diet by Cynthia Tobisch, Svenja Dege, Bernd Panassiti, Julian Treffler, Christoph Moning

“…Our study shows that genetic analysis of bat feces provides an efficient and promising approach to assess insect diversity patterns at the landscape level, and highlights the potential of widespread bat species for the monitoring of terrestrial insects at large scales.…”
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Isolation, Molecular Characterisation, and Pathogenicity Analysis of a Novel Recombinant ALV‐J Strain Isolated From Chinese Hetian Chickens by Tianyu Lei, Liyun Zhuang, Tingting Dai, Qun Niu, Yinli Bao, Weiming Lin, Cuiqin Huang, Xintian Zheng

“…A strain, LY2021J, isolated from Hetian chickens, showed lower mortality despite severe dysplasia. Genetic analysis revealed high similarity between LY2021J and the Chinese strains JS14NT01 and NX0101, suggesting a shared origin. …”
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Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome by Liqin Huang, Yong Meng, Xiangming Guo

“…Our results further emphasize the importance of careful clinical and genetic analysis in determining mutation-disease associations and may lead to a better understanding of the role of PITX2 in ocular development.…”
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Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C ty... by Etienne Mondesert, Bastien Baud, Agathe Roubertie, Jean-François Benoist, Pierre-Edouard Grillet, Jean-Paul Cristol, Marie Céline Francois-Heude, Manuel Schiff, Stéphanie Badiou

“…Diagnosis was later confirmed by genetic analysis which identified two pathogenic variants on the MMACHC gene: c.271dupA (p.Arg91lysfs∗14) paternal allele and c.388T > C (p.Tyr130His) maternal allele. …”
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RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis by Qian Liu, Feifei Li, Qin Ruan, Nana Wang, Zhengjun Fan

“…Results The patient presented with early‐onset epilepsy, developmental delay, and brain structural abnormalities. Genetic analysis revealed a de novo variant in RHOBTB2, c.1532G>A, p.…”
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High-quality DNA extraction for Desmodium gangeticum: A medicinal shrub of Shivalik Himalayas by Shiwani Singh, Maneesh S. Bhandari, Neeraj Dwivedi

“…Also, the isolation of DNA in purified form has its significance in facilitating precise genetic analysis such as sequencing, restriction digestion and polymerase chain reaction (PCR)-based trials. …”
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