Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

Comment on "The Pro-Factor D Cleaving Activity of MASP-1/-3 Is Not Required for Alternative Pathway Function"

(2014) M. Takahashi et al.   JOURNAL OF IMMUNOLOGY

The Pro-Factor D Cleaving Activity of MASP-1/-3 Is Not Required for Alternative Pathway Function

(2014) S. E. Degn et al.   JOURNAL OF IMMUNOLOGY

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Complement activation by ligand-driven juxtaposition of discrete pattern recognition complexes

(2014) Søren E. Degn et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

C3 dysregulation due to factor H deficiency is mannan-binding lectin-associated serine proteases (MASP)-1 and MASP-3 independentin vivo

(2013) M. M. Ruseva et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Mannan-Binding Lectin-Associated Serine Protease (MASP)-1 Is Crucial for Lectin Pathway Activation in Human Serum, whereas neither MASP-1 nor MASP-3 Is Required for Alternative Pathway Function

(2012) S. E. Degn et al.   JOURNAL OF IMMUNOLOGY

Revised mechanism of complement lectin-pathway activation revealing the role of serine protease MASP-1 as the exclusive activator of MASP-2

(2012) D. Heja et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Disease-Causing Mutations in Genes of the Complement System

(2011) Søren E. Degn et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Role of Mannose-Binding Lectin-Associated Serine Protease-3 in Activation of the Alternative Complement Pathway

(2011) D. Iwaki et al.   JOURNAL OF IMMUNOLOGY

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

(2011) Caroline Rooryck et al.   NATURE GENETICS

MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes

(2010) Asli Sirmaci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

(2010) Hanka Venselaar et al.   BMC BIOINFORMATICS

PHAST and RPHAST: phylogenetic analysis with space/time models

(2010) M. J. Hubisz et al.   BRIEFINGS IN BIOINFORMATICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Essential role of Mannose-binding lectin-associated serine protease-1 in activation of the complement factor D

(2009) Minoru Takahashi et al.   JOURNAL OF EXPERIMENTAL MEDICINE

MAp44, a Human Protein Associated with Pattern Recognition Molecules of the Complement System and Regulating the Lectin Pathway of Complement Activation

(2009) S. E. Degn et al.   JOURNAL OF IMMUNOLOGY

MASP-1, a Promiscuous Complement Protease: Structure of Its Catalytic Region Reveals the Basis of Its Broad Specificity

(2009) J. Dobo et al.   JOURNAL OF IMMUNOLOGY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome?

(2008) Gabriela F. Leal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A