Anna Mikhailov

Disruption of major Ptchd1 isoforms causes autistic traits in social behavior and communication

Sangyoon Y. Ko, Stephen F. Pastore, S K Park, Jonathan R. Epp et autres

kr, ca (code pays fourni par la source)

Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes

Ricardo Harripaul, Ansa Rabia, Nasim Vasli, Anna Mikhailov et autres

Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) that affects about 1 in 54 children worldwide, imposing enormous economic and socioemotional burden on families and communities. Genetic studies of ASD have identified de novo copy number variants (CNVs) and point mutations …

ca, pk, ir, Maroc, us, sa, bd, gb (code pays fourni par la source)

RELN biallelic variant as a candidate risk factor in a consanguineous Pakistani family with bipolar disorder and clinical heterogeneity

Aisha Nasir Hashmi, Ricardo Harripaul, Tahir Muhammad, Benjamin Lowther et autres

BACKGROUND: Bipolar disorder (BD) is highly heritable, polygenic, multifactorial, and has complex genetic heterogeneity. This study aimed to identify rare variants contributing to the aetiology of BD in a consanguineous family from Pakistan. METHODS: Genome-wide SNP microarray and whole exome sequencing (WES) …

ca, pk, us (code pays fourni par la source)

Revision Interventions for Failed Proximal Interphalangeal Joint Arthroplasty: Causes and Outcomes

Pavel V. Fedotov, D. V. Kovalev, Н. С. Николаев, Anna Mikhailov

Background. In recent decades, interest in proximal interphalangeal joint (PIPJ) arthroplasty has significantly increased around the world. At the same time, a growing number of operations entail an increase in the number of reinterventions. The aim of the study — to determine …

Arthroplasty of the proximal interphalangeal joint of the hand: the current state of the problem

Pavel V. Fedotov, D. V. Kovalev, Anna Mikhailov

Introduction The proximal interphalangeal joint (PIP joint) plays an important role in ensuring optimal finger dexterity, grip strength and overall hand functionality. Arthroplasty is a promising direction in the surgical treatment of arthritis of the PIP joint of the hand, however, the …

Testing the PEST hypothesis using relevant Rett mutations in MeCP2 E1 and E2 isoforms

Ladan Kalani, Bo‐Hyun Kim, Alberto Ruiz de Chavez, Anastasia Roemer et autres

Mutations in methyl-CpG binding protein 2 (MeCP2), such as the T158M, P152R, R294X, and R306C mutations, are responsible for most Rett syndrome (RTT) cases. These mutations often result in altered protein expression that appears to correlate with changes in the nuclear size; …

ca, us, pl (code pays fourni par la source)

Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder

Hamid Khan, Ricardo Harripaul, Anna Mikhailov, Sumayah Herzi et autres

With its high rate of consanguineous marriages and diverse ethnic population, little is currently understood about the genetic architecture of autism spectrum disorder (ASD) in Pakistan. Pakistan has a highly ethnically diverse population, yet with a high proportion of endogamous marriages, and …

pk, ca, gb (code pays fourni par la source)

W53. MOLECULAR AND IN SILICO ANALYSIS OF CHD2 AND CHD8 DE NOVO MUTATIONS IN NEURODEVELOPMENTAL DISORDERS

Tahir Muhammad, Stephen F. Pastore, Anna Mikhailov, Thulasi Thiruvallur Madanagopal et autres

ca (code pays fourni par la source)

Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan

Ansa Rabia, Ricardo Harripaul, Anna Mikhailov, Saqib Mahmood et autres

The genetic dissection of autism spectrum disorders (ASD) has uncovered the contribution of de novo mutations in many single genes as well as de novo copy number variants. More recent work also suggests a strong contribution from recessively inherited variants, particularly in …

ca, pk, gb (code pays fourni par la source)

Autism spectrum disorder trios from consanguineous populations are enriched for rare biallelic variants, identifying 32 new candidate genes

Ricardo Harripaul, Ansa Rabia, Nasim Vasli, Anna Mikhailov et autres

Abstract Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects about 1 in 36 children in the United States, imposing enormous economic and socioemotional burden on families and communities. Genetic studies of ASD have identified de novo copy number variants …

ca, pk, ir, sa, us, gb (code pays fourni par la source)

TH11. AUTISM SPECTRUM DISORDER TRIOS FROM CONSANGUINEOUS POPULATIONS ARE ENRICHED FOR RARE BIALLELIC VARIANTS

Ricardo Harripaul, Ansa Rabia, Nasim Vasli, Anna Mikhailov et autres

us, ca, pk (code pays fourni par la source)

Mutation Analysis of a Pakistani Oculocutaneous Albinism Family Identifies a Novel Splice Site Defect in OCA2 Gene

Hadia Gul, Abdul Haleem Shah, Ricardo Harripaul, Anna Mikhailov et autres

Key words Oculocutaneous albinism, OCA2, Homozygosity-by-descent mapping, Whole exome sequencing, Splice site defectOculocutaneous albinism (OCA) is a multi-systemic and rare genetic disorder of pigmentation.It occurs due to defects in the melanin synthesis pathway.OCA is characterized by hypopigmentation of hair, dermis, and ocular …

pk, ca (code pays fourni par la source)