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Carbonic Anhydrases in Cnidarians: Novel Perspectives from the Octocorallian Corallium rubrum

PloS one, 2016-08, Vol.11 (8), p.e0160368-e0160368

2016

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A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

Human genetics, 2020-04, Vol.139 (4), p.461-472

2020

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Adamts5, the gene encoding a proteoglycan-degrading metalloprotease, is expressed by specific cell lineages during mouse embryonic development and in adult tissues

Gene Expression Patterns, 2009-06, Vol.9 (5), p.314-323

2009

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Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In-Frame Abnormal Transcripts

Human mutation, 2023-08, Vol.2023, p.1-7

2023

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The ADAMTS(L) family and human genetic disorders

Human molecular genetics, 2011-10, Vol.20 (2), p.R163-R167

2011

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Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome

Journal of medical genetics, 2024-03, Vol.61 (5), p.469-476

2024

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Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency

The FASEB journal, 2019-02, Vol.33 (2), p.2707-2718

2019

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Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome

American journal of human genetics, 2016-08, Vol.99 (2), p.407-413

2016

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Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome

Genetics in medicine, 2021-05, Vol.23 (5), p.865-871

2021

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Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature

Journal of medical genetics, 2024-02, Vol.61 (2), p.109-116

2024

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Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias

Frontiers in genetics, 2021-11, Vol.12, p.734718-734718

2021

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Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis

American journal of human genetics, 2012-04, Vol.90 (4), p.740-745

2012

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Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

Nature genetics, 2012-01, Vol.44 (1), p.85-88

2012

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Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

American journal of human genetics, 2011-07, Vol.89 (1), p.7-14

2011

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ADAMTS Proteins and Vascular Remodeling in Aortic Aneurysms

Biomolecules (Basel, Switzerland), 2022-01, Vol.12 (1), p.12

2022

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Editorial: Women in science: Genetics

Frontiers in genetics, 2022-10, Vol.13, p.1038317-1038317

2022

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Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

European journal of human genetics : EJHG, 2018-11, Vol.26 (11), p.1611-1622

2018

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Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP

Human mutation, 2013-01, Vol.34 (1), p.88-92

2013

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Identification of CANT1 Mutations in Desbuquois Dysplasia

American journal of human genetics, 2009-11, Vol.85 (5), p.706-710

2009

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Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis

Development (Cambridge), 2006-04, Vol.133 (8), p.1587-1596

2006

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In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome

European journal of human genetics : EJHG, 2010-01, Vol.18 (1), p.130-132

2010

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Metalloproteinases and their inhibitors in the pathophysiology of heritable connective tissue disorders: current evidence

Metalloproteinases in medicine, 2016-02, Vol.3, p.1

2016

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ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis

Matrix biology, 2007-07, Vol.26 (6), p.431-441

2007

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Carbonic Anhydrases in Cnidarians: Novel Perspectives from the Octocorallian Corallium rubrum

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

Adamts5, the gene encoding a proteoglycan-degrading metalloprotease, is expressed by specific cell lineages during mouse embryonic development and in adult tissues

Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In-Frame Abnormal Transcripts

The ADAMTS(L) family and human genetic disorders

Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome

Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome

Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome

Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature

Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias

Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

ADAMTS Proteins and Vascular Remodeling in Aortic Aneurysms

Editorial: Women in science: Genetics

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP

Identification of CANT1 Mutations in Desbuquois Dysplasia

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis

In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome

Metalloproteinases and their inhibitors in the pathophysiology of heritable connective tissue disorders: current evidence

ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis

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