Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: Evidence for a spectrum of ectopic calcification disorders?

(2011) Olivier M. Vanakker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern

(2011) M. Mohamed et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Mislocalization of large ARF-GEFs as a potential mechanism for BFA resistance in COG-deficient cells

(2011) Heather Flanagan-Steet et al.   EXPERIMENTAL CELL RESEARCH

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

(2011) Bert Callewaert et al.   HUMAN MUTATION

Generation of Chicken Monoclonal Antibodies Against the a1, a2, and a3 Subunit Isoforms of Vacuolar-type Proton ATPase

(2011) Ge-Hong Sun-Wada et al.   HYBRIDOMA

Animal models with pathological mineralization phenotypes

(2011) Uwe Kornak   JOINT BONE SPINE

Metabolic cutis laxa syndromes

(2011) Miski Mohamed et al.   JOURNAL OF INHERITED METABOLIC DISEASE

MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking

(2010) Beate Albrecht et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TGF-β in the pathogenesis and prevention of disease: a matter of aneurysmic proportions

(2010) Harry C. Dietz   JOURNAL OF CLINICAL INVESTIGATION

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome

(2009) Lina Basel-Vanagaite 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

Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa

(2009) Mailys Guillard et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygousfibulin-4gene mutation

(2009) J Hoyer et al.   CLINICAL GENETICS

Autosomal recessive cutis laxa syndrome revisited

(2009) Éva Morava et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

(2009) V. Hucthagowder et al.   HUMAN MOLECULAR GENETICS

Pathogenetic mechanisms and treatment options for ophthalmic pterygium: Trends and perspectives (Review)

(2009) Detorakis   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

Mutations in PYCR1 cause cutis laxa with progeroid features

(2009) Bruno Reversade et al.   NATURE GENETICS

Decreased bone density and treatment in patients with autosomal recessive cutis laxa

(2008) C Noordam et al.   ACTA PAEDIATRICA

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

(2008) Anna Rajab et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Function, structure and regulation of the vacuolar (H+)-ATPases

(2008) Kevin C. Jefferies et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Endocytic regulation of TGF-β signaling

(2008) Ye-Guang Chen   CELL RESEARCH

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

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

(2008) Hans Christian Hennies et al.   NATURE GENETICS

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type

(2008) L. Van Maldergem et al.   NEUROLOGY