Skin manifestations in CDG

Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease

(2013) Ming Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

(2013) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency

(2013) Heng Wang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Glycosylphosphatidylinositol mannosyltransferase II is the rate-limiting enzyme in glycosylphosphatidylinositol biosynthesis under limited dolichol-phosphate mannose availability

(2013) Tetsuya Hirata et al.   JOURNAL OF BIOCHEMISTRY

Mechanobiological dysregulation of the epidermis and dermis in skin disorders and in degeneration

(2013) Rei Ogawa et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency

(2013) Ranad Shaheen et al.   JOURNAL OF MEDICAL GENETICS

MAN1B1 Deficiency: An Unexpected CDG-II

(2013) Daisy Rymen et al.   PLoS Genetics

RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome

(2012) Susan J. Hassed et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

(2012) Bobby G. Ng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diseases of glycosylation beyond classical congenital disorders of glycosylation

(2012) Thierry Hennet   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Abnormal barrier function in the pathogenesis of ichthyosis: Therapeutic implications for lipid metabolic disorders

(2012) Peter M. Elias et al.   CLINICS IN DERMATOLOGY

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

(2012) Björn Fischer et al.   HUMAN GENETICS

Seipin: from human disease to molecular mechanism

(2012) Bethany R. Cartwright et al.   JOURNAL OF LIPID RESEARCH

Approach to hypohidrosis

(2012) K.Y. Chia et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

COG5-CDG: expanding the clinical spectrum

(2012) Daisy Rymen et al.   Orphanet Journal of Rare Diseases

Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome

(2011) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

(2011) Laura Southgate et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Altered trafficking and unfolded protein response induction as a result of M3 muscarinic receptor impaired N-glycosylation

(2011) Wilber Romero-Fernandez et al.   GLYCOBIOLOGY

Pathogenesis-Based Therapy Reverses Cutaneous Abnormalities in an Inherited Disorder of Distal Cholesterol Metabolism

(2011) Amy S. Paller et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Calcinosis cutis

(2011) Nadine Reiter et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Life with too much polyprenol: polyprenol reductase deficiency

(2011) J.E.H. Gründahl et al.   MOLECULAR GENETICS AND METABOLISM

O-Linked-N-acetylglucosamine on extracellular protein domains mediates epithelial cell–matrix interactions

(2011) Yuta Sakaidani et al.   Nature Communications

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

(2011) Dirk J. Lefeber et al.   PLoS Genetics

Genetic studies in a family with inverted nipples (mammillae invertita)

(2010) R. Shafir et al.   CLINICAL GENETICS

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

(2010) Kimia Kahrizi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

How Golgi glycosylation meets and needs trafficking: the case of the COG complex

(2010) E. Reynders et al.   GLYCOBIOLOGY

Fibrotic response in fibroblasts from congenital disorders of glycosylation

(2010) M. Rita Lecca et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Mechanisms of Relaxin Receptor (LGR7/RXFP1) Expression and Function

(2009) András Kern et al.   Annals of the New York Academy of Sciences

Essential mesenchymal role of small GTPase Rac1 in interdigital programmed cell death during limb development

(2009) Dai Suzuki et al.   DEVELOPMENTAL BIOLOGY

A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes

(2009) Clio Dessinioti et al.   EXPERIMENTAL DERMATOLOGY

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

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

Aberrant Notch signaling: A potential pathomechanism of vitiligo

(2009) Jian-Sheng Diao et al.   MEDICAL HYPOTHESES

Sequential Activation of Matrix Metalloproteinase 9 and Transforming Growth Factor β in Arterial Elastocalcinosis

(2008) Céline Bouvet et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Identification of the N-Linked Glycosylation Sites of the Human Relaxin Receptor and Effect of Glycosylation on Receptor Function†

(2008) Y. Yan et al.   BIOCHEMISTRY

Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis

(2008) Ilana Chefetz et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity

(2008) Ilana Chefetz et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Roles of Pofut1 andO-Fucose in Mammalian Notch Signaling

(2008) Mark Stahl et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

QTL for the heritable inverted teat defect in pigs

(2008) Elisabeth Jonas et al.   MAMMALIAN GENOME

Glycolipid-Dependent Sorting of Melanosomal from Lysosomal Membrane Proteins by Lumenal Determinants

(2008) Sophie Groux-Degroote et al.   TRAFFIC

Notch signaling: Its role in epidermal homeostasis and in the pathogenesis of skin diseases

(2007) Ryuhei Okuyama et al.   JOURNAL OF DERMATOLOGICAL SCIENCE