Publications by authors named "Matilde I Conte"

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Opportunities and tradeoffs in single-cell transcriptomic technologies.
Matilde I Conte, Azahara Fuentes-Trillo, Cecilia Domínguez Conde

Trends Genet· January 2024

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SARS-CoV-2 infection induces DNA damage, through CHK1 degradation and impaired 53BP1 recruitment, and cellular senescence.
Ubaldo Gioia, Sara Tavella, Pamela Martínez-Orellana, Giada Cicio, Andrea Colliva, Matilde I Conte

Nat Cell Biol· April 2023

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An ELF4 hypomorphic variant results in NK cell deficiency.
Sandra Andrea Salinas, Emily M Mace, Matilde I Conte, Chun Shik Park, Yu Li

JCI Insight· December 2022

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Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia.
Matilde I Conte, M Cecilia Poli, Angelo Taglialatela, Giuseppe Leuzzi, Ivan K Chinn

JCI Insight· November 2022

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Human NK cell deficiency as a result of biallelic mutations in MCM10.
Emily M Mace, Silke Paust, Matilde I Conte, Ryan M Baxley, Megan M Schmit

J Clin Invest· October 2020

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Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males.
Francesca Fusco, Matilde Immacolata Conte, Andrea Diociaiuti, Stefania Bigoni, Maria Francesca Branda

Pediatrics· September 2017

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EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.
Francesca Fusco, Alessandra Pescatore, Matilde Immacolata Conte, Peppino Mirabelli, Mariateresa Paciolla

Int Rev Immunol· August 2016

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B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand.
Giuliana Giardino, Emilia Cirillo, Vera Gallo, Tiziana Esposito, Francesca Fusco, Matilde Immacolata Conte

Clin Immunol· December 2015

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Incontinentia pigmenti: report on data from 2000 to 2013.
Francesca Fusco, Mariateresa Paciolla, Matilde Immacolata Conte, Alessandra Pescatore, Elio Esposito

Orphanet J Rare Dis· June 2014

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Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.
Matilde Immacolata Conte, Alessandra Pescatore, Mariateresa Paciolla, Elio Esposito, Maria Giuseppina Miano

Hum Mutat· February 2014

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