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3 results on '"J.M. van Hagen"'

1. Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome

Author

J.M. van Hagen, J.N. van der Geest, R.S. van der Giessen, G.C. Lagers-van Haselen, H.J.F.M.M. Eussen, J.J.P. Gille, L.C.P. Govaerts, C.H. Wouters, I.F.M. de Coo, C.C. Hoogenraad, S.K.E. Koekkoek, M.A. Frens, N. van Camp, A. van der Linden, M.C.E. Jansweijer, S.S. Thorgeirsson, and C.I. De Zeeuw

Subjects
Human, Mice, Motor behavior, Cognition, Genetic disorder, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Williams Syndrome (WS, [MIM 194050]) is a disorder caused by a hemizygous deletion of 25–30 genes on chromosome 7q11.23. Several of these genes including those encoding cytoplasmic linker protein-115 (CYLN2) and general transcription factors (GTF2I and GTF2IRD1) are expressed in the brain and may contribute to the distinct neurological and cognitive deficits in WS patients. Recent studies of patients with partial deletions indicate that hemizygosity of GTF2I probably contributes to mental retardation in WS. Here we investigate whether CYLN2 and GTF2IRD1 contribute to the motoric and cognitive deficits in WS. Behavioral assessment of a new patient in which STX1A and LIMK1, but not CYLN2 and GTF2IRD1, are deleted showed that his cognitive and motor coordination functions were significantly better than in typical WS patients. Comparative analyses of gene specific CYLN2 and GTF2IRD1 knockout mice showed that a reduced size of the corpus callosum as well as deficits in motor coordination and hippocampal memory formation may be attributed to a deletion of CYLN2, while increased ventricle volume can be attributed to both CYLN2 and GTF2IRD1. We conclude that the motor and cognitive deficits in Williams Syndrome are caused by a variety of genes and that heterozygous deletion of CYLN2 is one of the major causes responsible for such dysfunctions.

Published
2007
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2. Bartter syndrome Type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation

Author

Rik Westland, Erik-Jan Kamsteeg, P. van der Valk, J.M. van Hagen, H.J.R. van der Horst, W.W.M. Hack, L.B. Uittenbogaard, J. A. E. van Wijk, L.P.W.J. van den Heuvel, Pediatric surgery, Urology, Obstetrics and gynaecology, Human genetics, Pathology, and ICaR - Ischemia and repair

Subjects
Adult, Pediatrics, medicine.medical_specialty, Polyhydramnios, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], endocrine system diseases, Urinary system, Prenatal diagnosis, Kidney, Bartter syndrome, urologic and male genital diseases, Renal disorder Energy and redox metabolism [IGMD 9], Genomic disorders and inherited multi-system disorders [IGMD 3], Chloride Channels, Pregnancy, Prenatal Diagnosis, medicine, Humans, Urinary Tract, CLCNKB, biology, business.industry, Bartter Syndrome, Mitochondrial medicine Energy and redox metabolism [IGMD 8], General Medicine, medicine.disease, Hypokalemia, female genital diseases and pregnancy complications, Renal disorder Membrane transport and intracellular motility [IGMD 9], medicine.anatomical_structure, Nephrology, Mutation, Chloride channel, biology.protein, Female, medicine.symptom, business
Abstract

Item does not contain fulltext Bartter syndrome encompasses a variety of inheritable renal tubular transport disorders characterized by hypokalemia and hypochloremic metabolic alkalosis. Bartter syndrome Type III is caused by genetic alterations in the chloride channel kidney B (CLCNKB) gene and often presents in the first 2 years of life, known as classic Bartter syndrome. However, in rare cases Bartter syndrome Type III has an antenatal presentation with polyhydramnios, premature delivery and severe dehydration in the first weeks of life. Associations between congenital anomalies of the kidney and urinary tract and Bartter syndrome are extremely rare. This case report presents a girl with Bartter syndrome Type III due to a homozygous CLCNKB mutation and bilateral congenital anomalies of the kidney and urinary tract. In addition, we describe the antenatal presentation as well as its perinatal management. 5 p.

Published
2012
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3. Rendu-Osler-Weber disease: update of medical and dental considerations

Author

A.H. te Veldhuis, F.S. van Dijk, E.C. te Veldhuis, I. van der Waal, M.L. Kwee, J.M. van Hagen, J.A. Baart, Human genetics, Oral and Maxillofacial Surgery / Oral Pathology, CCA - Disease profiling, University of Groningen, and MKA (OUD, ACTA)

Subjects
Male, medicine.medical_specialty, Activin Receptors, Type II, Genetic counseling, Receptors, Cell Surface, Disease, PHENOTYPE, Oral cavity, Tongue Diseases, MECHANISMS, SDG 3 - Good Health and Well-being, PULMONARY ARTERIOVENOUS-MALFORMATIONS, Antigens, CD, medicine, Humans, HEREDITARY HEMORRHAGIC TELANGIECTASIA, Telangiectasia, General Dentistry, Nose, Genes, Dominant, Smad4 Protein, MUTATIONS, business.industry, Endoglin, Lip Diseases, Middle Aged, SERIES, ANTIGENS CD, medicine.disease, Dermatology, Rendu-Osler-Weber disease, GENOTYPE, Surgery, ENG, MANIFESTATIONS, medicine.anatomical_structure, Otorhinolaryngology, Tongue disease, Mutation, Female, Telangiectasia, Hereditary Hemorrhagic, Oral Surgery, medicine.symptom, business, CEREBRAL ABSCESS
Abstract

Rendu-Osler-Weber disease, also known as hereditary hemorrhagic telangiectasia (HHT), is an autosomal dominant inherited disorder characterized by an aberrant vascular development. The reported prevalence is approximately 1 per 5,000-10,000. The clinical manifestations consist of recurrent spontaneous nosebleeds, telangiectasias characteristically at the lips, oral cavity, fingers, and nose, and visceral arteriovenous malformations. Timely recognition of this syndrome makes screening for complications, preventive measurements, and genetic counselling possible. The important role of the dental profession in the recognition of this genetic disease is emphasized. In addition, a brief overview of the current literature is presented.

Published
2008
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