Руководство По Интерпретации Данных Последовательности ДНК Человека, Полученных Методами Массового Параллельного Секвенирования (MPS) (Редакция 2018, Версия 2)

Рыжкова, О. П.; Кардымон, О. Л.; Прохорчук, Е. Б.; Коновалов, Ф. А.; Масленников, А. Б.; Stepanov, Vadim; Afanas’ev, A. A.; Заклязьминская, Е. В.; Rebrikov, Denis; Савостьянов, К. В.; Glotov, Andrey S.; Kostareva, Anna; Павлов, А. Е.; Голубенко, М. В.; Поляков, А. В.; Куцев, С. И.

doi:10.25557/2073-7998.2019.02.3-23

Cited by 62 publications

(22 citation statements)

References 7 publications

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“…Письменное информированное согласие было получено от всех официальных представителей пациентов и участников КГ. [13]. Подтверждение генетических вариантов, найденных методом NGS, а также генетическое исследование у сибсов проводили методом прямого секвенирования по Сэнгеру на капиллярном секвенаторе Genetic Analyzer 3500XL (Applied Biosystems).…”

Section: материалы и методы исследованияunclassified

Platelet phenotype in children with ANKRD26-related thrombocytopenia

Polokhov¹,

Федорова²,

Pshonkin³

et al. 2021

Voprosy gematologii/onkologii i immunopatologii v pediatrii

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The mechanisms of hemorrhagic manifestations in patients with ANKRD26associated thrombocytopenia (ANKRD26-AT) are poorly understood. The aim of this work is to detect possible morpho-functional disorders of platelets in patients with mutations in the ANKRD26gene by flow cytometry with activation. The study was approved by the Independent Ethics Committee of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. 8 children aged from 1.5 to 15 years were examined. The platelet count ranged from 29 to 172 thousand/μl, with a median of 60 thousand/μl. The severity of hemorrhagic manifestations was assessed on a standardized scale (Pediatric Bleeding Questionnaire, PBQ) and it ranged from 0 to 5 points, with a median of 3.5 points. Platelet activation was performed with a CRP + TRAP mixture. Comparison was carried out with the results of examination of 26 apparently healthy children (control group, CG) aged 2 to 15 years. When compared with CG, patients showed an increase in platelet size (FSC; p= 0.018) and granularity (SSC; p< 0.001) after activation. In contrast to the CG, the correlation between FSC and SSC of platelets in patients was not significant (cor. = 0.55; p= 0.15). Patients showed a high, significant relationship between the number and FSC of platelets (cor. = –0.93; p< 0.001), as well as an increased density of CD42b (p < 0.001) and a decrease in the proportion of procoagulant platelets (p= 0.01) after activation. The revealed changes indicate violations of the mechanisms of activation and shape changes of platelets in patients with ANKRD26-AT.

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Section: материалы и методы исследованияunclassified

Platelet phenotype in children with ANKRD26-related thrombocytopenia

Polokhov¹,

Федорова²,

Pshonkin³

et al. 2021

Voprosy gematologii/onkologii i immunopatologii v pediatrii

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“…Предположительно, MAP3K1 в гонадах участвует в балансировании экспрессии «яичниковых» и «яичковых» генов. Как показано в нескольких исследованиях in vitro, при гиперфосфорилировании MAP3K1 наблюдается снижение экспрессии ряда ФТ, детерминирующих дифференцировку гонады в яичко, таких как SOX9/FGF9/FGFR2/SRY, на фоне чего происходят стабилизация β-катенин-сигнального В нашей когорте, после исключения по критериям патогенности [8,9] вероятно доброкачественных вариантов (likely benign), наличие ВЗ в гене MAP3K1, возможно, ассоциированных с ДГ, было установлено у 10 пациентов, что составило 3,2% всей группы. Среди выявленных изменений одна ВЗ p.C691R обнаружена у трех пациентов, в том числе у двух сибсов.…”

Section: материалы и методыunclassified

“…VUS -вариант с неопределенной клинической значимостью, в скобках указаны коэффициенты (PP, PM и др.) для расчета патогенности[8,9]. с пристеночными включениями, при цветном допплеровском картировании (ЦДК) -без кровотока; при кариотипировании выявлен мужской кариотип 46,XY.…”

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Gonadal dysgenesis 46,XY DSD associated with variants in the MAP3K1 gene

Kalinchenko

Tiulpakov

2020

Probl Endokrinol (Mosk)

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Disorders of sex development (DSDs) are congenital conditions in which phenotype does not correspond to chromosomal and gonadal sex. To date, the etiology of DSD is established only in half of the cases. With the development of modern methods of molecular genetic diagnostics in the last decade, a number of new regulators of gonad differentiation have been discovered, whose expression disorders can lead to DSD. Among these factors, Mitogen-activated triple protein kinase 1 (MAP3K1). A distinctive feature of studying the detected variants in the MAP3K1 gene that they lead to activation of MAP3K1. It does not allow using generally accepted pathogenicity assessment algorithms. However, the frequency of detection of changes in MAP3K1 is up to 18% of all cases of DSD, according to literature, which emphasizes the importance of studying each identified case, establishing the relationship of the disease with the identified genetic disorders. In this article, we present a clinical, hormonal, and molecular genetic description of 7 cases of DSD associated with variants in MAP3K1, an analysis of the significance of our own data, and a short analysis of the current scientific literature on this issue.

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“…Измерение концентрации лизо-Гл1, использованное в нашей работе для биохимической диагностики пациентов с подозрением на БК, имеет важную научно-практическую значимость. Этот биомаркер может быть использован в скрининговых исследованиях в качестве дополнительного аналита БК, тогда как для рекомендации этого биомаркера в качестве первичного аналита для диагностики БК, как в случае болезни Гоше [18], требуются дальнейшие исследования с включением большего числа пациентов.…”

Section: таблица 1 клинико-анамнестические характеристики обследованных пациентов с бк на момент постановки диагнозаunclassified

Molecular diagnostics of the Krabbe disease in Russian children

et al. 2020

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Introduction. Krabbe disease (KD) is the lysosomal storage disease developed due to the decline of the galactocerebrosidase activity associated with mutations in the GALC gene. It leads to the development of oligodendrocytes and lemmocytes (Schwann cells) myelin-forming dysfunction. Nowadays the only possible treatment of KD is hemopoietic cell transplantation which should be performed before the manifestation of any signs of disease. That is why laboratory diagnostics has special significance. The aim of the study. To elaborate the algorithm of a molecular diagnostics of the Krabbe disease (KD) in Russian children. Material and methods. 190 patients were diagnosed for the exclusion of KD during the period from 2012 to 2019. In all cases, there was measured a galactocerebrosidase activity in dry blood spots. In cases with the declined enzyme activity, there was performed a further search of pathogenic variants in the GALC gene. The concentration of glycosyl sphingosine (Lyso-GL1) biomarker was measured in 90 patients included in the study since 2016. Results. The enzyme activity was decreased in all patients in comparison with the control group (0.330.05; 2.950.24 mol/l/h, (p0.001; CI: 95%) in 9 patients. Also, we revealed an increased concentration of Lyso-GL1 biomarker in matched controls (12.501.57 ng/ml; 1.80.33 ng/ml, (p0.005; CI: 95%) in 5 patients. During molecular genetic testing of KD, three novel pathogenic variants of the GALC gene were revealed in 3 out of 9 patients: c.265-2AG, c.1036del and c.2037_2040del. Conclusion. The Lyso-GL1 concentration measurement can be used as an additional diagnostics method of KD. The high efficiency of the presented algorithm for the KD diagnostics in Russian children is presented.

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Руководство По Интерпретации Данных Последовательности ДНК Человека, Полученных Методами Массового Параллельного Секвенирования (MPS) (Редакция 2018, Версия 2)

Cited by 62 publications

References 7 publications

Platelet phenotype in children with ANKRD26-related thrombocytopenia

Platelet phenotype in children with ANKRD26-related thrombocytopenia

Gonadal dysgenesis 46,XY DSD associated with variants in the MAP3K1 gene

Molecular diagnostics of the Krabbe disease in Russian children

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