Lista de obras - Giuseppe Merla - Dominio Público Uruguay

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

artículo científico publicado en 2014

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

artículo científico publicado en 2020

Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains

artículo científico publicado en 2019

Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1

artículo científico publicado en 2020

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

artículo científico publicado en 2022

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.

artículo científico publicado en 2017

Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder

artículo científico publicado en 2020

DNA Methylation in the Diagnosis of Monogenic Diseases

artículo científico publicado en 2020

Dissecting KMT2D missense mutations in Kabuki syndrome patients

scientific article published on 01 November 2018

Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication

scientific article published on 04 December 2019

E3 Ubiquitin Ligase TRIM Proteins, Cell Cycle and Mitosis

artículo científico publicado en 2019

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes

scientific article published on 08 July 2020

Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line

scientific article published on 22 August 2019

HDAC6 mediates the acetylation of TRIM50.

artículo científico publicado en 2013

Identification of additional transcripts in the Williams-Beuren syndrome critical region

artículo científico publicado en 2002

Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants

artículo científico publicado en 2018

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature

artículo científico publicado en 2017

Loss of Function of the Gene Encoding the Histone Methyltransferase KMT2D Leads to Deregulation of Mitochondrial Respiration

scientific article published on 13 July 2020

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

artículo científico publicado en 2011

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

artículo científico publicado en 2014

Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene

article

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits ⬇️

artículo científico publicado el 12 de junio de 2013

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

artículo científico publicado en 2006

TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survival

artículo científico publicado en 2015

The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresome

artículo científico publicado en 2012

The Emerging Role of Gβ Subunits in Human Genetic Diseases

scientific article published on 04 December 2019

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

artículo científico publicado en 2014

The epileptology of GNB5 encephalopathy

scientific article published on 20 October 2019

The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3

artículo científico publicado en 2004

Lista de obras de Giuseppe Merla

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains

Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.

Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder

DNA Methylation in the Diagnosis of Monogenic Diseases

Dissecting KMT2D missense mutations in Kabuki syndrome patients

Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication

E3 Ubiquitin Ligase TRIM Proteins, Cell Cycle and Mitosis

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes

Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line

HDAC6 mediates the acetylation of TRIM50.

Identification of additional transcripts in the Williams-Beuren syndrome critical region

Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature

Loss of Function of the Gene Encoding the Histone Methyltransferase KMT2D Leads to Deregulation of Mitochondrial Respiration

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits ⬇️

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survival

The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresome

The Emerging Role of Gβ Subunits in Human Genetic Diseases

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

The epileptology of GNB5 encephalopathy

The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3