Search Results - "Rebrikov, Denis V."

EBS in Children with De Novo Pathogenic Variants Disturbing Krt14 by Kosykh, Anastasiya V, Ryumina, Irina I, Botkina, Alexandra S, Evtushenko, Nadezhda A, Zhigmitova, Elena B, Martynova, Aleksandra A, Gurskaya, Nadya G, Rebrikov, Denis V

“…Epidermolysis bullosa simplex (EBS) is a dermatological condition marked by skin fragility and blister formation resulting from separation within the basal…”
Get full text

Torque teno virus dynamics during the first year of life by Tyschik, Elena A, Rasskazova, Anastasiya S, Degtyareva, Anna V, Rebrikov, Denis V, Sukhikh, Gennady T

“…Torque teno virus is a small chronically persisting circular negative ssDNA virus reaching near 100% prevalence. It is reported to be a marker for immune…”
Get full text

Candidate Genes for IgA Nephropathy in Pediatric Patients: Exome-Wide Association Study by Buianova, Anastasiia A, Proskura, Mariia V, Cheranev, Valery V, Belova, Vera A, Shmitko, Anna O, Pavlova, Anna S, Vasiliadis, Iuliia A, Suchalko, Oleg N, Rebrikov, Denis V, Petrosyan, Edita K, Korostin, Dmitriy O

“…IgA nephropathy (IgAN) is an autoimmune disorder which is believed to be non-monogenic. We performed an exome-wide association study of 70 children with IgAN…”
Get full text

Transplacental transmission of torque teno virus by Tyschik, Elena A, Shcherbakova, Sophia M, Ibragimov, Ruslan R, Rebrikov, Denis V

“…TTV has been detected in almost every human tissue type or body fluid reaching near 100% prevalence. Several studies report mother-to-child postnatal…”
Get full text

Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies by Tolmacheva, Ekaterina, Bolshakova, Anna S, Shubina, Jekaterina, Rogacheva, Margarita S, Ekimov, Alexey N, Podurovskaya, Julia L, Burov, Artem A, Rebrikov, Denis V, Bychenko, Vladimir G, Trofimov, Dmitry Yu, Sukhikh, Gennady T

“…Whole exome sequencing allows rapid identification of causative single nucleotide variants and short insertions/deletions in children with congenital anomalies…”
Get full text

Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients by Degtyareva, Anna V, Proshlyakova, Tatiana Y, Gautier, Marina S, Degtyarev, Dmitry N, Kamenets, Elena A, Baydakova, Galina V, Rebrikov, Denis V, Zakharova, Ekaterina Y

“…Niemann-Pick disease type C (NP-C) is an inherited neurodegenerative disease (1 per 100 000 newborns) caused by NPC proteins impairment that leads to…”
Get full text

Effects of Angiotensin-I-Converting Enzyme (ACE) Mutations Associated with Alzheimer's Disease on Blood ACE Phenotype by Kryukova, Olga V, Islanov, Igor O, Zaklyazminskaya, Elena V, Korostin, Dmitry O, Belova, Vera A, Cheranev, Valery V, Repinskaia, Zhanna A, Tonevitskaya, Svetlana A, Petukhov, Pavel A, Dudek, Steven M, Kost, Olga A, Rebrikov, Denis V, Danilov, Sergei M

“…Our recent analysis of 1200+ existing missense ACE mutations revealed that 400+ mutations are damaging and led us to hypothesize that carriers of heterozygous…”
Get full text

De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures by Kochetkova, Taisiya O, Maslennikov, Dmitry N, Tolmacheva, Ekaterina R, Shubina, Jekaterina, Bolshakova, Anna S, Suvorova, Dzhenneta I, Degtyareva, Anna V, Orlovskaya, Irina V, Kuznetsova, Maria V, Rachkova, Anastasia A, Sukhikh, Gennady T, Rebrikov, Denis V, Trofimov, Dmitriy Yu

“…The reduction in next-generation sequencing (NGS) costs allows for using this method for newborn screening for monogenic diseases (MDs). In this report, we…”
Get full text

Torque Teno Virus (TTV) distribution in healthy Russian population by Vasilyev, Evgeny V, Trofimov, Dmitry Y, Tonevitsky, Alexander G, Ilinsky, Valery V, Korostin, Dmitriy O, Rebrikov, Denis V

“…Torque teno virus (TTV) is a circular, single-stranded DNA virus that chronically infects healthy individuals of all ages worldwide. There is a lot of data on…”
Get full text

A novel method for SNP detection using a new duplex-specific nuclease from crab hepatopancreas by Shagin, Dmitry A, Rebrikov, Denis V, Kozhemyako, Valery B, Altshuler, Ilia M, Shcheglov, Alex S, Zhulidov, Pavel A, Bogdanova, Ekaterina A, Staroverov, Dmitry B, Rasskazov, Valery A, Lukyanov, Sergey

“…We have characterized a novel nuclease from the Kamchatka crab, designated duplex-specific nuclease (DSN). DSN displays a strong preference for cleaving…”
Get full text

Constant companion: clinical and developmental aspects of torque teno virus infections by Lolomadze, Elena A., Rebrikov, Denis V.

“…Torque teno virus (TTV) is a commensal human virus observed as a circular single-negative-strand DNA molecule in various tissues and biological samples,…”
Get full text

The bacterial neurometabolic signature of the gut microbiota of young children with autism spectrum disorders by Averina, Olga V, Kovtun, Alexey S, Polyakova, Svetlana I, Savilova, Anastasia M, Rebrikov, Denis V, Danilenko, Valery N

“…The human gut microbiota is currently seen as an important factor that can promote autism spectrum disorder (ASD) development in children. This study aimed to…”
Get full text

Dynamics of Individual T Cell Repertoires: From Cord Blood to Centenarians by Britanova, Olga V, Shugay, Mikhail, Merzlyak, Ekaterina M, Staroverov, Dmitriy B, Putintseva, Ekaterina V, Turchaninova, Maria A, Mamedov, Ilgar Z, Pogorelyy, Mikhail V, Bolotin, Dmitriy A, Izraelson, Mark, Davydov, Alexey N, Egorov, Evgeny S, Kasatskaya, Sofya A, Rebrikov, Denis V, Lukyanov, Sergey, Chudakov, Dmitriy M

“…The diversity, architecture, and dynamics of the TCR repertoire largely determine our ability to effectively withstand infections and malignancies with minimal…”
Get full text

Effect of ACE mutations on blood ACE phenotype parameters by Kryukova, Olga V, Korostin, Dmitry O, Belova, Vera A, Cheranev, Valery V, Repinskaia, Zhanna A, Uporov, Igor V, Dudek, Steven M, Kost, Olga A, Rebrikov, Denis V, Danilov, Sergei M

“…Analysis of existing mutations of Angiotensin-I-Converting Enzyme (ACE) led us to hypothesize that the carriers of damaging ACE mutations (accompanied by low…”
Get full text

CD8+ T cells with characteristic T cell receptor beta motif are detected in blood and expanded in synovial fluid of ankylosing spondylitis patients by Komech, Ekaterina A, Pogorelyy, Mikhail V, Egorov, Evgeniy S, Britanova, Olga V, Rebrikov, Denis V, Bochkova, Anna G, Shmidt, Evgeniya I, Shostak, Nadejda A, Shugay, Mikhail, Lukyanov, Sergey, Mamedov, Ilgar Z, Lebedev, Yuriy B, Chudakov, Dmitriy M, Zvyagin, Ivan V

“…Abstract Objective The risk of AS is associated with genomic variants related to antigen presentation and specific cytokine signalling pathways, suggesting the…”
Get full text

Diplocloster agilis gen. nov., sp. nov. and Diplocloster modestus sp. nov., two novel anaerobic fermentative members of Lachnospiraceae isolated from human faeces by Chaplin, Andrei V, Shcherbakova, Viktoria A, Pikina, Alla P, Sokolova, Sofia R, Korzhanova, Margarita, Belova, Vera A, Korostin, Dmitriy O, Rebrikov, Denis V, Kardonsky, Dmitry A, Urban, Anatoly S, Zakharzhevskaya, Natalia B, Suzina, Natalia E, Podoprigora, Irina V, Das, Milana S, Kholopova, Daria O, Efimov, Boris A

“…Three novel strains of Gram-stain-negative, obligately anaerobic, spore-forming straight or slightly curved rods with pointed ends occurring singly or in pairs…”
Get full text

CAMK2D De Novo Missense Variant in Patient with Syndromic Neurodevelopmental Disorder: A Case Report by Tolmacheva, Ekaterina R, Shubina, Jekaterina, Kochetkova, Taisiya O, Ushakova, Lubov' V, Bokerija, Ekaterina L, Vasiliev, Grigory S, Mikhaylovskaya, Galina V, Atapina, Ekaterina E, Zaretskaya, Nadezhda V, Sukhikh, Gennady T, Rebrikov, Denis V, Trofimov, Dmitriy Yu

“…Intellectual disability with developmental delay is the most common developmental disorder. However, this diagnosis is rarely associated with congenital…”
Get full text

Complete genome sequence of a novel extrachromosomal virus-like element identified in planarian Girardia tigrina by Rebrikov, Denis V, Bulina, Maria E, Bogdanova, Ekaterina A, Vagner, Loura L, Lukyanov, Sergey A

“…Freshwater planarians are widely used as models for investigation of pattern formation and studies on genetic variation in populations. Despite extensive…”
Get full text

Contribution of functional KIR3DL1 to ankylosing spondylitis by Zvyagin, Ivan V, Mamedov, Ilgar Z, Britanova, Olga V, Staroverov, Dmitriy B, Nasonov, Evgeni L, Bochkova, Anna G, Chkalina, Anna V, Kotlobay, Alexei A, Korostin, Dmitriy O, Rebrikov, Denis V, Lukyanov, Sergey, Lebedev, Yuri B, Chudakov, Dmitriy M

“…Increasing evidence points to a role for killer immunoglobulin-like receptors (KIRs) in the development of autoimmune diseases. In particular, a positive…”
Get full text

Suppression subtractive hybridization by Rebrikov, Denis V, Desai, Sejal M, Siebert, Paul D, Lukyanov, Sergey A

“…Suppression subtractive hybridization (SSH) is a widely used method for separating DNA molecules that distinguish two closely related DNA samples. Two of the…”
Get more information