Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling

(2011) Andy Willaert et al.   HUMAN MOLECULAR GENETICS

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

(2011) Bert Callewaert et al.   HUMAN MUTATION

Cútis laxa: relato de caso

(2010) Gisele Moro do Nascimento et al.   ANAIS BRASILEIROS DE DERMATOLOGIA

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

(2010) Marjolijn Renard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Familial Aggregation and Heritability of Pyloric Stenosis

(2010) Camilla Krogh   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Mechanisms of emphysema in autosomal dominant cutis laxa

(2010) Qirui Hu et al.   MATRIX BIOLOGY

Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2

(2009) Duane L. Guernsey et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in LTBP4 Cause a Syndrome of Impaired Pulmonary, Gastrointestinal, Genitourinary, Musculoskeletal, and Dermal Development

(2009) Zsolt Urban et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Angiotensin II, mitochondria, cytoskeletal, and extracellular matrix connections: an integrating viewpoint

(2009) Elena MV de Cavanagh et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Pulmonary Hypertension and Computed Tomography Measurement of Small Pulmonary Vessels in Severe Emphysema

(2009) Shin Matsuoka et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Mutations in PYCR1 cause cutis laxa with progeroid features

(2009) Bruno Reversade et al.   NATURE GENETICS

Structure and Interdomain Interactions of a Hybrid Domain: A Disulphide-Rich Module of the Fibrillin/LTBP Superfamily of Matrix Proteins

(2009) Sacha A. Jensen et al.   STRUCTURE

Integrins and the activation of latent transforming growth factor β1 – An intimate relationship

(2008) P WIPFF et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome

(2008) Louise S Bicknell et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Fibronectin and heparin binding domains of latent TGF-β binding protein (LTBP)-4 mediate matrix targeting and cell adhesion

(2008) A KANTOLA et al.   EXPERIMENTAL CELL RESEARCH

A p.C217R Mutation in Fibulin-5 from Cutis Laxa Patients Is Associated with Incomplete Extracellular Matrix Formation in a Skin Equivalent Model

(2008) Stephanie Claus et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Transforming Growth Factor-β Activation in the Lung: Focus on Fibrosis and Reactive Oxygen Species

(2007) Katri Koli et al.   ANTIOXIDANTS & REDOX SIGNALING

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

(2007) B.L. Callewaert et al.   HUMAN MUTATION