Raissa Relator

Lineage Plasticity and Mesenchymal-Stem Cell Enrichment in ACC: A Paired Transcriptomic Analysis of Primary Tumors and Derived Cell Lines for Modeling Recurrence

Tatiana Karpinets, Yoshitsugu Mitani, Michael T. Spiotto, Jie Li et autres

RNA-seq expression profiles of 12 cell lines and 9 paired primary tumor tissues of Adenoid Cystic Carcinoma (ACC). This dataset provides a comparative transcriptomic resource for studying the molecular characteristics of ACC, including the shift toward mesenchymal and stem-like phenotypes in in …

Lineage Plasticity and Mesenchymal-Stem Cell Enrichment in ACC: A Paired Transcriptomic Analysis of Primary Tumors and Derived Cell Lines for Modeling Recurrence

Tatiana Karpinets, Yoshitsugu Mitani, Michael T. Spiotto, Jie Li et autres

RNA-seq expression profiles of 12 cell lines and 9 paired primary tumor tissues of Adenoid Cystic Carcinoma (ACC). This dataset provides a comparative transcriptomic resource for studying the molecular characteristics of ACC, including the shift toward mesenchymal and stem-like phenotypes in in …

Identification of an episignature for the MEF2C-associated syndrome

Ananília Silva, Sadegheh Haghshenas, Liselot van der Laan, Michael A. Levy et autres

ca, nl, us, fr, es, au (code pays fourni par la source)

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Ghayda Mirzaa, Keqin Yan, Raissa Relator, Mathieu Lévesque et autres

Pathogenic variants in ATP-dependent chromatin remodeling proteins are a recurrent cause of neurodevelopmental disorders (NDDs). The NURF complex consists of BPTF and either the SMARCA5 or SMARCA1 ISWI-chromatin remodeling enzyme. Pathogenic variants in BPTF and SMARCA5 have been previously implicated in NDDs. …

us, ca, fr, es, it, se, nl, cz, be, qa, gr, Afrique du Sud, ch, gb, mx (code pays fourni par la source)

Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome

Liselot van der Laan, Raissa Relator, Irene Valenzuela, Adri N. Mul et autres

PURPOSE: Fetal alcohol spectrum disorder (FASD) encompasses a range of clinical features and neurodevelopmental disorders in children exposed to alcohol in utero. Despite its global public health significance, FASD diagnosis remains challenging because of nonspecific clinical findings and the lack of an …

nl, ca (code pays fourni par la source)

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

Aymeric Masson, Julien Paccaud, Martina Orefice, Estelle Colin et autres

Polypyrimidine tract-binding protein 1 (PTBP1) is a heterogeneous nuclear ribonucleoprotein primarily known for its alternative splicing activity. It shuttles between the nucleus and cytoplasm via partially overlapping N-terminal nuclear localization (NLS) and export (NES) signals. Despite its fundamental role in cell growth …

fr, it, se, fi, ca, us, nl, il, pl, hu, ch, de, nz, au, es (code pays fourni par la source)

Identification of genetic and non-genetic modifiers of genomic imprinting through screening of imprinted DMR methylation in humans

Francesco Cecere, Raissa Relator, Michael A. Levy, Ankit Verma et autres

BACKGROUND: Genomic imprinting is required for normal development, and abnormal methylation of differentially methylated regions (iDMRs) controlling the parent of origin-dependent expression of the imprinted genes has been found in congenital disorders affecting growth, metabolism, neurobehavior, and in cancer. In most of …

it, ca (code pays fourni par la source)

Comparative transcriptomics of salivary basal cell adenoma and adenocarcinoma sustain linear neoplastic evolution and intertumor heterogeneity: classification and biological implications

Yoshitsugu Mitani, Haneen Al‐Maghrabi, Tatiana V. Karpinets, Raissa Relator et autres

It remains uncertain whether basal cell adenoma (BCA) and basal cell adenocarcinoma (BCAC) of the salivary gland represent two distinct neoplasms or temporal stages of a single entity. The issue is central to reconciling their shared phenotypic resemblance and protracted behavior with …

us, sa (code pays fourni par la source)

Identification of genetic and non-genetic modifiers of genomic imprinting through whole genome screening in humans

Francesco Cecere, Raissa Relator, Michael A. Levy, Ankit Verma et autres

Abstract Genomic imprinting is required for normal development, and abnormal methylation of differentially methylated regions (iDMRs) controlling the parent of origin-dependent expression of the imprinted genes has been found in constitutional disorders affecting growth, metabolism, neurobehavior, and in cancer. In most of …

it, ca (code pays fourni par la source)

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature

Clara Houdayer, Kathleen Rooney, Liselot van der Laan, Céline Bris et autres

Rare genetic variants in ARID2 are responsible for a recently described neurodevelopmental condition called ARID2-related disorder (ARID2-RD). ARID2 belongs to PBAF, a unit of the SWI/SNF complex, which is a chromatin remodeling complex. This work aims to further delineate the phenotypic spectrum …

fr, ca, nl, ch, be, au, us (code pays fourni par la source)

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome

Karim Karimi, Yael Lichtenstein, Jack Reilly, Haley McConkey et autres

ca, il, nl, gb, fr, us, au, br, es, ie (code pays fourni par la source)

Epigenomic and phenotypic characterization of DEGCAGS syndrome

Karim Karimi, Denisa Weis, Ingvild Aukrust, Tzung‐Chien Hsieh et autres

ca, at, no, de, gb, iq, pl, pt, us, sa, in, sk, Égypte (code pays fourni par la source)