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Weill-Marchesani syndrome 4 caused by compound heterozygosity of a maternal submicroscopic deletion and a paternal nonsense variant in the ADAMTS17 gene: A case report

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The critical role of the TB5 domain of fibrillin-1 in endochondral ossification

(2022) Laure Delhon et al.   HUMAN MOLECULAR GENETICS

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations

(2022) Geeske M. van Woerden et al.   HUMAN MUTATION

The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection

(2022) Jotte Rodrigues Bento et al.   Annual Review of Genomics and Human Genetics

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors

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Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome

(2022) Mojiang Li et al.   Frontiers in Genetics

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

(2021) Alban Ziegler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8

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New gene discoveries in skeletal diseases with short stature

(2021) Alice Costantini et al.   Endocrine Connections

Anti-TGFβ (Transforming Growth Factor β) Therapy With Betaglycan-Derived P144 Peptide Gene Delivery Prevents the Formation of Aortic Aneurysm in a Mouse Model of Marfan Syndrome

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Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7

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Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy

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Long-term clinical outcomes of losartan in patients with Marfan syndrome: follow-up of the multicentre randomized controlled COMPARE trial

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A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features

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Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins

(2020) Sarah Stanley et al.   ANNALS OF THE NEW YORK ACADEMY OF SCIENCES

Geleophysic and acromicric dysplasias: natural history, genotype–phenotype correlations, and management guidelines from 38 cases

(2020) Pauline Marzin et al.   GENETICS IN MEDICINE

Mechanisms of bone development and repair

(2020) Ankit Salhotra et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement

(2020) Roland Stengl et al.   Orphanet Journal of Rare Diseases

ADAMTSL2 gene variant in patients with features of autosomal dominant connective tissue disorders

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Genotype–phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders

(2019) Narin Intarak et al.   MOLECULAR GENETICS AND GENOMICS

Limb- and tendon-specific Adamtsl2 deletion identifies a role for ADAMTSL2 in tendon growth in a mouse model for geleophysic dysplasia

(2019) Dirk Hubmacher et al.   MATRIX BIOLOGY

A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill–Marchesani syndrome from a Chinese family

(2019) Haoan Yi et al.   JOURNAL OF HUMAN GENETICS

Adamts17 is involved in skeletogenesis through modulation of BMP-Smad1/5/8 pathway

(2019) Takeshi Oichi et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Nosology and classification of genetic skeletal disorders: 2019 revision

(2019) Geert R. Mortier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix

(2019) Stylianos Z. Karoulias et al.   MATRIX BIOLOGY

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections

(2018) Dong-chuan Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder

(2018) Silvia Morlino et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7

(2018) Alice Costantini et al.   European Journal of Medical Genetics

The role of TGF-β/SMAD4 signaling in cancer

(2018) Ming Zhao et al.   International Journal of Biological Sciences

ADAMTS10-mediated tissue disruption in Weill–Marchesani syndrome

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Adamts10 inactivation in mice leads to persistence of ocular microfibrils subsequent to reduced fibrillin-2 cleavage

(2018) Lauren W. Wang et al.   MATRIX BIOLOGY

Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency

(2018) Laure Delhon et al.   FASEB JOURNAL

Accommodative esotropia and Brown syndrome in a girl with recessive geleophysic dysplasia

(2018) Arif O. Khan et al.   JOURNAL OF AAPOS

A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2

(2017) Dongxiao Li et al.   European Journal of Medical Genetics

Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features

(2017) Kosei Hasegawa et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Signaling pathways regulating cartilage growth plate formation and activity

(2017) William E. Samsa et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

TGF-β Family Signaling in Mesenchymal Differentiation

(2017) Ingo Grafe et al.   Cold Spring Harbor Perspectives in Biology

TGF-β Family Signaling in Connective Tissue and Skeletal Diseases

(2017) Elena Gallo MacFarlane et al.   Cold Spring Harbor Perspectives in Biology

Acromicric Dysplasia Caused by a Novel Heterozygous Mutation ofFBN1and Effects of Growth Hormone Treatment

(2017) Hyung Suk Jin et al.   Annals of Laboratory Medicine

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

(2016) Carine Le Goff et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

(2016) Emma M. Wade et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gain-of-function mutations inSMAD4cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome

(2016) Angela E. Lin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I

(2016) Luisa Mackenroth et al.   CLINICAL DYSMORPHOLOGY

Mutations inLTBP3cause acromicric dysplasia and geleophysic dysplasia

(2016) Aideen M McInerney-Leo et al.   JOURNAL OF MEDICAL GENETICS

Exploring genomic alteration in pediatric cancer using ProteinPaint

(2016) Xin Zhou et al.   NATURE GENETICS

BMP signalling in skeletal development, disease and repair

(2016) Valerie S. Salazar et al.   Nature Reviews Endocrinology

Non-Smad Signaling Pathways of the TGF-β Family

(2016) Ying E. Zhang   Cold Spring Harbor Perspectives in Biology

Geleophysic dysplasia: A novel in-frame deletion of a tandem repeat in theADAMTSL2gene

(2015) Liliana García-Ortiz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia - a novel mouse model providing insights into geleophysic dysplasia

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Marfan Sartan: a randomized, double-blind, placebo-controlled trial

(2015) Olivier Milleron et al.   EUROPEAN HEART JOURNAL

Short and tall stature: a new paradigm emerges

(2015) Jeffrey Baron et al.   Nature Reviews Endocrinology

NovelSMAD4mutation causing Myhre syndrome

(2014) Viviana Caputo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome

(2014) Hannes Steinkellner et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

(2014) Caroline Michot et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan

(2014) Pasquale Piccolo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia

(2014) Yu Wang et al.   JOURNAL OF HUMAN GENETICS

Similarity of geleophysic dysplasia and weill-marchesani syndrome

(2013) Aaina Kochhar et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia

(2013) Allen L. Pimienta et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome

(2013) Alana Cecchi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates

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Novel Mutations in Geleophysic Dysplasia Type 1

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From tall to short: The role of TGFβ signaling in growth and its disorders

(2012) Carine Le Goff et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1

(2012) Tomoko Lee et al.   GENE

LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix

(2012) Ramona Haji-Seyed-Javadi et al.   HUMAN MUTATION

Familial spherophakia with short stature caused by a novel homozygousADAMTS17mutation

(2012) Arif O. Khan et al.   OPHTHALMIC GENETICS

Fibrillin-1 Mutations Causing Weill-Marchesani Syndrome and Acromicric and Geleophysic Dysplasias Disrupt Heparan Sulfate Interactions

(2012) Stuart A. Cain et al.   PLoS One

Microenvironmental Regulation by Fibrillin-1

(2012) Gerhard Sengle et al.   PLoS Genetics

The TGFbeta Superfamily Signaling Pathway

(2012) Alexander Weiss et al.   Wiley Interdisciplinary Reviews-Developmental Biology

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

(2011) Carine Le Goff et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TGF-β signaling in fibrosis

(2011) Anna Biernacka et al.   GROWTH FACTORS

The ADAMTS(L) family and human genetic disorders

(2011) C. Le Goff et al.   HUMAN MOLECULAR GENETICS

ADAMTS10 Protein Interacts with Fibrillin-1 and Promotes Its Deposition in Extracellular Matrix of Cultured Fibroblasts

(2011) Wendy E. Kutz et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

(2011) S. Allali et al.   JOURNAL OF MEDICAL GENETICS

Latent TGF-β structure and activation

(2011) Minlong Shi et al.   NATURE

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

(2011) Carine Le Goff et al.   NATURE GENETICS

Potent inhibition of heterotopic ossification by nuclear retinoic acid receptor-γ agonists

(2011) Kengo Shimono et al.   NATURE MEDICINE

Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)-A distinct syndrome?

(2010) Sérgio B. Sousa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TAK1 mediates BMP signaling in cartilage

(2010) Matthew B. Greenblatt et al.   Annals of the New York Academy of Sciences

A new growth deficiency syndrome

(2010) Selma A. Myhre et al.   CLINICAL GENETICS

TAK1 regulates cartilage and joint development via the MAPK and BMP signaling pathways

(2010) Lea M Gunnell et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Marfan syndrome. Part 2: treatment and management of patients

(2010) Victoria Cañadas et al.   Nature Reviews Cardiology

A New Mouse Model for Marfan Syndrome Presents Phenotypic Variability Associated with the Genetic Background and Overall Levels of Fbn1 Expression

(2010) Bruno L. Lima et al.   PLoS One

Losartan therapy in adults with Marfan syndrome: study protocol of the multi-center randomized controlled COMPARE trial

(2010) Teodora Radonic et al.   Trials

Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3

(2009) Abdul Noor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature

(2009) Jose Morales et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Long-term effects of losartan on structure and function of the thoracic aorta in a mouse model of Marfan syndrome

(2009) HH Clarice Yang et al.   BRITISH JOURNAL OF PHARMACOLOGY

Clinical Trial of Doxycycline for Matrix Metalloproteinase-9 Inhibition in Patients With an Abdominal Aneurysm

(2009) Jan H.N. Lindeman et al.   CIRCULATION

Extracellular microfibrils: contextual platforms for TGFβ and BMP signaling

(2009) Francesco Ramirez et al.   CURRENT OPINION IN CELL BIOLOGY

Smad signaling in skeletal development and regeneration

(2009) Buer Song et al.   CYTOKINE & GROWTH FACTOR REVIEWS

TAK1 is an essential regulator of BMP signalling in cartilage

(2009) Jae-Hyuck Shim et al.   EMBO JOURNAL

Doxycycline therapy for abdominal aneurysm: Improved proteolytic balance through reduced neutrophil content

(2009) Hazem Abdul-Hussien et al.   JOURNAL OF VASCULAR SURGERY

Bone as an endocrine organ

(2009) Seiji Fukumoto et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Role of transforming growth factor-β superfamily signaling pathways in human disease

(2008) Kelly J. Gordon et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Non-Smad pathways in TGF-β signaling

(2008) Ying E Zhang   CELL RESEARCH

Long-Term Doxycycline Is More Effective Than Atenolol to Prevent Thoracic Aortic Aneurysm in Marfan Syndrome Through the Inhibition of Matrix Metalloproteinase-2 and -9

(2008) Ada W.Y. Chung et al.   CIRCULATION RESEARCH

Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme

(2008) Wendy E. Kutz et al.   HUMAN MUTATION

p38 MAPK Is an Early Determinant of Promiscuous Smad2/3 Signaling in the Aortas of Fibrillin-1 (Fbn1)-null Mice

(2008) Luca Carta et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Doxycycline delays aneurysm rupture in a mouse model of Marfan syndrome

(2008) Wanfen Xiong et al.   JOURNAL OF VASCULAR SURGERY

TRAF6 Mediates Smad-Independent Activation of JNK and p38 by TGF-β

(2008) Motozo Yamashita et al.   MOLECULAR CELL

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

(2008) Carine Le Goff et al.   NATURE GENETICS

Angiotensin II Blockade and Aortic-Root Dilation in Marfan's Syndrome

(2008) Benjamin S. Brooke et al.   NEW ENGLAND JOURNAL OF MEDICINE

Differentiation of Osteoblasts and Osteocytes from Mesenchymal Stem Cells

(2008) Terhi Heino et al.   Current Stem Cell Research & Therapy