Loss of ADAMTS3 activity causes Hennekam lymphangiectasia–lymphedema syndrome 3

Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1

(2017) Sawan Kumar Jha et al.   Scientific Reports

Two cases ofRIT1associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature

(2016) Doris Milosavljević et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Determination of the substrate repertoire of ADAMTS2, 3, and 14 significantly broadens their functions and identifies extracellular matrix organization and TGF-β signaling as primary targets

(2016) Mourad Bekhouche et al.   FASEB JOURNAL

EPHB4 kinase–inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis

(2016) Silvia Martin-Almedina et al.   JOURNAL OF CLINICAL INVESTIGATION

Proteolytic activation defines distinct lymphangiogenic mechanisms for VEGFC and VEGFD

(2016) Hung M. Bui et al.   JOURNAL OF CLINICAL INVESTIGATION

ADAMTS3 activity is mandatory for embryonic lymphangiogenesis and regulates placental angiogenesis

(2015) Lauriane Janssen et al.   ANGIOGENESIS

Functional Dissection of the CCBE1 Protein: A Crucial Requirement for the Collagen Repeat Domain

(2015) M. G. Roukens et al.   CIRCULATION RESEARCH

Mutations inRIT1cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype

(2015) M. Koenighofer et al.   CLINICAL GENETICS

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

(2015) Viktor Lukacs et al.   Nature Communications

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

(2015) Elisavet Fotiou et al.   Nature Communications

CCBE1 Enhances Lymphangiogenesis via A Disintegrin and Metalloprotease With Thrombospondin Motifs-3–Mediated Vascular Endothelial Growth Factor-C Activation

(2014) Michael Jeltsch et al.   CIRCULATION

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome

(2014) Mariëlle Alders et al.   HUMAN GENETICS

Genetics of lymphatic anomalies

(2014) Pascal Brouillard et al.   JOURNAL OF CLINICAL INVESTIGATION

A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease

(2014) Emilia Balboa-Beltran et al.   JOURNAL OF MEDICAL GENETICS

Mutation in Vascular Endothelial Growth Factor-C, a Ligand for Vascular Endothelial Growth Factor Receptor-3, Is Associated With Autosomal Dominant Milroy-Like Primary Lymphedema

(2013) Kristiana Gordon et al.   CIRCULATION RESEARCH

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

CCBE1 Is Essential for Mammalian Lymphatic Vascular Development and Enhances the Lymphangiogenic Effect of Vascular Endothelial Growth Factor-C In Vivo

(2011) Frank L. Bos et al.   CIRCULATION RESEARCH

Protein Tyrosine Phosphatase PTPN14 Is a Regulator of Lymphatic Function and Choanal Development in Humans

(2010) Audrey C. Au et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia

(2009) Fiona Connell et al.   HUMAN GENETICS

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

(2009) Marielle Alders et al.   NATURE GENETICS

ccbe1 is required for embryonic lymphangiogenesis and venous sprouting

(2009) Benjamin M Hogan et al.   NATURE GENETICS