Sissy Bassani

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies

Francesca Mattioli, Rún Friðriksdóttir, Anne Hebert, Sissy Bassani et autres

BACKGROUND: Variants in genes encoding multiple subunits of the RNA Polymerase III complex which synthesizes rRNAs, tRNAs, and other small RNAs were previously associated with neurological disorders, such as syndromic hypomyelination leukodystrophies, pontocerebellar hypoplasia, and cerebellofaciodental syndrome. One new such candidate is …

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Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin et autres

BACKGROUND: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpression in zebrafish provided evidence for a dominant-negative …

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Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect

Fang Yang, Anaïs Begemann, Nadine Reichhart, Akvile Haeckel et autres

Anoctamins are a family of Ca 2+ -activated proteins that may act as ion channels and/or phospholipid scramblases with limited understanding of function and disease association. Here, we identified five de novo and two inherited missense variants in ANO4 (alias TMEM16D ) …

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Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin et autres

Abstract Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpression in zebrafish provided evidence for a dominant-negative …

ch, it, de, us, nl, no, fr, si, fi (code pays fourni par la source)

Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss

Sissy Bassani, Edward S. A. van Beelen, Mireille Rossel, Norine Voisin et autres

Non-Syndromic Hereditary Hearing Loss (NSHHL) is a genetically heterogeneous sensory disorder with about 120 genes already associated. Through exome sequencing (ES) and data aggregation, we identified a family with six affected individuals and one unrelated NSHHL patient with predicted-to-be deleterious missense variants …

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New age-related hearing loss candidate genes in humans: an ongoing challenge

Mariateresa Di Stazio, Anna Morgan, Marco Brumat, Sissy Bassani et autres

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Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss

Giorgia Girotto, Anna Morgan, Navaneethakrishnan Krishnamoorthy, Massimiliano Cocca et autres

Age-related hearing loss (ARHL) is the most common sensory impairment in the elderly affecting millions of people worldwide. To shed light on the genetics of ARHL, a large cohort of 464 Italian patients has been deeply characterized at clinical and molecular level. …

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