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ATM gene

ATM gene alterations in different childhood cancers : (Gumy Pause F)
ATM (Ataxia-Telangiectasia Mutated) germline mutations are responsible for ataxia-telangiectasia (AT), a rare autosomal recessive disorder characterized by a prominent predisposition to lymphoid neoplasia. While 30 to 40% of all AT patients will develop neoplasia during their life, 10 to 15 % of them will present a lymphoid malignancy in childhood or early adulthood. The ATM gene is located at the 11q22-23 bands and encodes a nuclear 370-kD phosphoprotein. Biochemical studies have identified various substrates for the ATM protein: targets for ATM catalytic activity include the nuclear tyrosine kinase c-Abl, p53, Chk2, Nbs1, BRCA1 and FANCD2. On the whole, these observations place ATM as an upstream mediator of a kinase cascade that links the detection of DNA damage to cell-cycle progression, genetic recombination and apoptosis.
The principal aim of our study is to assess the prevalence of ATM gene alterations in different childhood cancers (leukemias, lymphomas and neuroblastoma). This project is realized in collaboration with the COG (Children's Oncology Group, USA) and with the Dr D. Betts (Kinderspital, Zurich).

Electroencephalographic and neuroanatomical study of Attention Deficit and Hyperactivity Disorder : a search for endophenotypes (Dr Menache Starobinski)

Value of amplitude integrated EEG in hypoxia-ischemia in the developing brain (Dr Menache Starobinski)

The role of spontaneous general movements assessment in the follow-up of high risk preterm infants: comparison with Bayley Scales of Infant Development and advanced Magnetic Resonance Imaging (Dr Menache Starobinski)

Group's publications

Decreased bone turnover in children and adolescents with well controlled type 1 diabetes.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM : JPEM
2010 vol. 23(7) pp. 697-707
MAGGIO A, FERRARI S, KRAENZLIN M, MARCHAND L, SCHWITZGEBEL V, BEGHETTI M, RIZZOLI R, FARPOUR-LAMBERT N

Perinatal Exposure to Bisphenol A Alters Early Adipogenesis in the Rat
ENVIRONMENTAL HEALTH PERSPECTIVES
2009 vol. 117(10) pp. 1549-1555
SOMM E, SCHWITZGEBEL V, TOULOTTE A, CEDERROTH CR, COMBESCURE C, NEF S, AUBERT ML, HUPPI PETRA

Female genital mutilation and its prevention: a challenge for paediatricians.
EUROPEAN JOURNAL OF PEDIATRICS
2009 vol. 168(1) pp. 27-33
JAEGER F, CAFLISCH M, HOHLFELD P

Modeling intrauterine growth retardation in rodents: Impact on pancreas development and glucose homeostasis.
MOLECULAR AND CELLULAR ENDOCRINOLOGY
2009 vol. 304(1-2) pp. 78-83
SCHWITZGEBEL V, SOMM E, KLEE P

Prenatal nicotine exposure and the programming of metabolic and cardiovascular disorders.
MOLECULAR AND CELLULAR ENDOCRINOLOGY
2009 vol. 304(1-2) pp. 69-77
SOMM E, SCHWITZGEBEL V, VAUTHAY D, AUBERT ML, HUPPI PETRA

Prenatal nicotine exposure alters early pancreatic islet and adipose tissue development with consequences on the control of body weight and glucose metabolism later in life.
ENDOCRINOLOGY
2008 vol. 149(12) pp. 6289-6299
SOMM E, SCHWITZGEBEL V, VAUTHAY D, CAMM EJ, CHEN CY, GIACOBINO JP, SIZONENKO STEPHANE, AUBERT ML, HUPPI PETRA

Long-term cultures of polarized airway epithelial cells from patients with cystic fibrosis
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
2006 vol. 34(1) pp. 39-48
WISZNEWSKI LUDOVIC, JORNOT LAN, DUDEZ TECLA, PAGANO ALESSANDRA, ROCHAT THIERRY, LACROIX JEAN SILVAIN, SUTER SUSANNE, CHANSON MARC

A child with a systemic febrile illness - differential diagnosis and management
BEST PRACTICE & RESEARCH. CLINICAL RHEUMATOLOGY
2006 vol. 20(4) pp. 627-640
HOFER MICHAEL, MAHLAOUI NIZAR, PRIEUR ANNE-MARIE

Spondylarthropathies in children--are they different from those in adults?
BEST PRACTICE & RESEARCH. CLINICAL RHEUMATOLOGY
2006 vol. 20(2) pp. 315-328
HOFER MICHAEL

ATM alterations in childhood non-Hodgkin lymphoma
CANCER GENETICS AND CYTOGENETICS
2006 vol. 166 pp. 101-111
GUMY-PAUSE F, WACKER P, MAILLET P, BETTS DR, SAPPINO AP

Gap junctional communication does not contribute to the interaction between neutrophils and airway epithelial cells
CELL COMMUNICATION AND ADHESION
2006 vol. 13 pp. 1-12
SCERRI I, TABARY O, DUDEZ T, JACQUOT J, FOGLIA B, SUTER S, CHANSON M

Bird breeder's disease: a rare diagnosis in young children
EUROPEAN JOURNAL OF PEDIATRICS
2006 vol. 165 pp. 55-61
STAUFFER E, PACHE JC, RENEVEY F, HANQUINET-GINTER S, GUINAND S, BARAZZONE ARGIROFFO C

Decreased blood pressure in NOX1-deficient mice
FEBS LETTERS
2006 vol. 580 pp. 497-504
GAVAZZI G, BANFI B, DEFFERT C, FIETTE L, SCHAPPI M, HERRMANN F, KRAUSE KH

ATM variants and predisposition to childhood T-lineage acute lymphoblastic leukaemia
LEUKEMIA
2006 vol. 20 pp. 526-527
GUMY-PAUSE F, WACKER P, MAILLET P, BETTS DR, SAPPINO AP

ATM promoter analysis in childhood lymphoid malignancies: A brief communication
LEUKEMIA RESEARCH
2006 vol. 30 pp. 335-337
GUMY-PAUSE F, WACKER P, MAILLET P, BETTS DR, SAPPINO AP

Fatal GvHD as a complication of liver transplantation for undetermined fulminant hepatic failure and associated aplastic anemia
LIVER TRANSPLANTATION : OFFICIAL PUBLICATION OF THE AMERICAN ASSOCIATION FOR THE STUDY OF LIVER DISEASES AND THE INTERNATIONAL LIVER TRANSPLANTATION SOCIETY
2006 vol. 12(11) pp. 1693-1697
SCHAEPPI MICHELA, BELLI DOMINIQUE, RIMENSBERGER PETER, CHARDOT CHRISTOPHE, GÜRKAN KAYA, TIERCY JEAN-MARIE, OZSAHIN HULYA

Neuropsychological problems after paediatric stroke: two year follow-up of Swiss children
NEUROPEDIATRICS
2006 vol. 37(1) pp. 13-19
PAVLOVIC J. ET AL.

Anesthesia management in a young child with aromatic L-amino acid decarboxylase deficiency
PEDIATRIC ANESTHESIA
2006 vol. 16(1) pp. 82-84
VUTSKITS L, MENACHE C, MANZANO S, HAENGGELI CA, KISS J

Adrenocortical oncocytoma in a child
PEDIATRIC BLOOD & CANCER
2006 vol. 50(3) pp. 718-721
GUMY PAUSE FABIENNE, BONGIOVANNI MASSIMO, WILDHABER BARBARA, JENKINS J, CHARDOT CHRISTOPHE, OZSAHIN AYSE

Multiple pulmonary abscesses caused by Legionella pneumophila infection in an infant with croup
PEDIATRIC INFECTIOUS DISEASE JOURNAL
2006 vol. 25(8) pp. 753-754
MYERS C, CORBELLI R, SCHRENZEL J, GERVAIX A

Santé des adolescents : le rôle essentiel de la collaboration entre santé scolaire et institutions de soins
REVUE MEDICALE DE LA SUISSE ROMANDE
2006 vol. 2(69) pp. 1510-1513
BOUVIER P, CAFLISCH M, NARRING F

Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function.
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
2005 vol. 90 pp. 5401-5406
MARTHINET ERIC, BLOC ALAIN, OKA YOSHIMOTO, TANIZAWA YUKIO, WEHRLE-HALLER BERNHARD, BANCILA VICTOR, DUBUIS JEAN-MICHEL, PHILIPPE JACQUES, SCHWITZGEBEL LUSCHER VALERIE

The zinc finger-containing transcription factor Gata-4 is expressed in the developing endocrine pancreas and activates glucagon gene expression
MOLECULAR ENDOCRINOLOGY
2005 vol. 19 pp. 759-770
RITZ-LASER BEATE, MAMIN ALINE, BRUN THIERRY, AVRIL ISABELLE, SCHWITZGEBEL LUSCHER VALERIE, PHILIPPE JACQUES

The first three years of the Swiss neuropaediatric stroke registry (SNPSR) : a population-based study of incidence, symptoms and risk factors
NEUROPEDIATRICS
2005 vol. 36 pp. 90-97
STEINLIN M ET AL

Use of Swiss paediatric emergency department has grown
B.
2002 vol. pp. 325-389
LAUBSCHER B, DONATIELLO C

Interaction of connexins with protein partners in the control of channel turnover and gating
BIOLOGY OF THE CELL
2002 vol. 94 pp. 445-456
THOMAS MA, HUANG S, COKOJA A, RICCIO O, STAUB O, SUTER S, CHANSON M

Treatment of chronic granulomatous disease with myeloblative conditioning and an unmodified hematopoietic allograft : a survey of the European experience. 1985-2000
BLOOD
2002 vol. 100 pp. 4344-4350
SEGER RA, GUNGOR R, BELOHRADSKY PB, BLANCHE S, BORDIGONI P, DI BARTOLOMEO P, FLOOD T, LANDAIS P, MULLER S, PORTA F, SLAVIN S, WULFFRAAT N, ZINTL F,, NAGLER A, OZSAHIN H, CANT A, FISCHER A

Reduced connexin43 expression inhibits atherosclerotic lesion formation in low-density lipoprotein receptor-deficient mice
CIRCULATION
2002 vol. 107 pp. 1033-1039
KWAK BR, VEILLARD N, PELLI G, MULHAUPT F, JAMES RW, CHANSON M, MACH F

Defective activation of c-Src in cystic fibrosis airway epithelial cells results in loss of tumor necrosis factor-alpha-induced gap junction regulation
JOURNAL OF BIOLOGICAL CHEMISTRY
2002 vol. 278 pp. 8326-8332
HUANG S, DUDEZ T, SCERRI I, THOMAS MA, GIEPMANS BNG, SUTER S, CHANSON M

Characterization of a novel chemotactic factor for neutrophils in the bronchial secretions of patients with cystic fibrosis
JOURNAL OF INFECTIOUS DISEASES
2002 vol. 186 pp. 774-781
DUDEZ DS, CHANSON M, SCHLEGEL-HAUETER S, SUTER S

An unusual intraorbital abscess in a neonate
JOURNAL OF PEDIATRIC OPHTHALMOLOGY AND STRABISMUS
2002 vol. 39 pp. 295-297
FLUSS J, POSFAY-BARBE K, ROSSILLION B, RILLIET B, SUTER S

Pharmacological profile of a new, potent, and long-acting gonadotropin-releasing hormone antagonist : degarelix
JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS
2002 vol. 301 pp. 95-102
BROQUA P, RIVIERE PJ, CONN PM, RIVIER JE, AUBERT ML, JUNIEN JL

Research's domains




DATABASE-RESEARCH	GROUP OF CLINICAL PATIENT RESEARCH

Schwitzgebel Valérie	Head of group CV	Research subject	Members of the group


	Links about the group Dr.Valérie Schwitzgebel Hôpital des enfants/HUG Unité d'endo/diabéto. pédiatr. 6, rue Willy-Donzé 1211 Genève 4 Suisse Valerie.Schwitzgebel@hcuge.ch Tel.: +41 22 372 45 91 Comments Pages updated the 17.11.2015		Reseach's subject \| Group's publications \| Research's domains ATM gene ATM gene alterations in different childhood cancers : (Gumy Pause F) ATM (Ataxia-Telangiectasia Mutated) germline mutations are responsible for ataxia-telangiectasia (AT), a rare autosomal recessive disorder characterized by a prominent predisposition to lymphoid neoplasia. While 30 to 40% of all AT patients will develop neoplasia during their life, 10 to 15 % of them will present a lymphoid malignancy in childhood or early adulthood. The ATM gene is located at the 11q22-23 bands and encodes a nuclear 370-kD phosphoprotein. Biochemical studies have identified various substrates for the ATM protein: targets for ATM catalytic activity include the nuclear tyrosine kinase c-Abl, p53, Chk2, Nbs1, BRCA1 and FANCD2. On the whole, these observations place ATM as an upstream mediator of a kinase cascade that links the detection of DNA damage to cell-cycle progression, genetic recombination and apoptosis. The principal aim of our study is to assess the prevalence of ATM gene alterations in different childhood cancers (leukemias, lymphomas and neuroblastoma). This project is realized in collaboration with the COG (Children's Oncology Group, USA) and with the Dr D. Betts (Kinderspital, Zurich). Electroencephalographic and neuroanatomical study of Attention Deficit and Hyperactivity Disorder : a search for endophenotypes (Dr Menache Starobinski) Value of amplitude integrated EEG in hypoxia-ischemia in the developing brain (Dr Menache Starobinski) The role of spontaneous general movements assessment in the follow-up of high risk preterm infants: comparison with Bayley Scales of Infant Development and advanced Magnetic Resonance Imaging (Dr Menache Starobinski) Group's publications Decreased bone turnover in children and adolescents with well controlled type 1 diabetes. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM : JPEM 2010 vol. 23(7) pp. 697-707 MAGGIO A, FERRARI S, KRAENZLIN M, MARCHAND L, SCHWITZGEBEL V, BEGHETTI M, RIZZOLI R, FARPOUR-LAMBERT N Perinatal Exposure to Bisphenol A Alters Early Adipogenesis in the Rat ENVIRONMENTAL HEALTH PERSPECTIVES 2009 vol. 117(10) pp. 1549-1555 SOMM E, SCHWITZGEBEL V, TOULOTTE A, CEDERROTH CR, COMBESCURE C, NEF S, AUBERT ML, HUPPI PETRA Female genital mutilation and its prevention: a challenge for paediatricians. EUROPEAN JOURNAL OF PEDIATRICS 2009 vol. 168(1) pp. 27-33 JAEGER F, CAFLISCH M, HOHLFELD P Modeling intrauterine growth retardation in rodents: Impact on pancreas development and glucose homeostasis. MOLECULAR AND CELLULAR ENDOCRINOLOGY 2009 vol. 304(1-2) pp. 78-83 SCHWITZGEBEL V, SOMM E, KLEE P Prenatal nicotine exposure and the programming of metabolic and cardiovascular disorders. MOLECULAR AND CELLULAR ENDOCRINOLOGY 2009 vol. 304(1-2) pp. 69-77 SOMM E, SCHWITZGEBEL V, VAUTHAY D, AUBERT ML, HUPPI PETRA Prenatal nicotine exposure alters early pancreatic islet and adipose tissue development with consequences on the control of body weight and glucose metabolism later in life. ENDOCRINOLOGY 2008 vol. 149(12) pp. 6289-6299 SOMM E, SCHWITZGEBEL V, VAUTHAY D, CAMM EJ, CHEN CY, GIACOBINO JP, SIZONENKO STEPHANE, AUBERT ML, HUPPI PETRA Long-term cultures of polarized airway epithelial cells from patients with cystic fibrosis AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY 2006 vol. 34(1) pp. 39-48 WISZNEWSKI LUDOVIC, JORNOT LAN, DUDEZ TECLA, PAGANO ALESSANDRA, ROCHAT THIERRY, LACROIX JEAN SILVAIN, SUTER SUSANNE, CHANSON MARC A child with a systemic febrile illness - differential diagnosis and management BEST PRACTICE & RESEARCH. CLINICAL RHEUMATOLOGY 2006 vol. 20(4) pp. 627-640 HOFER MICHAEL, MAHLAOUI NIZAR, PRIEUR ANNE-MARIE Spondylarthropathies in children--are they different from those in adults? BEST PRACTICE & RESEARCH. CLINICAL RHEUMATOLOGY 2006 vol. 20(2) pp. 315-328 HOFER MICHAEL ATM alterations in childhood non-Hodgkin lymphoma CANCER GENETICS AND CYTOGENETICS 2006 vol. 166 pp. 101-111 GUMY-PAUSE F, WACKER P, MAILLET P, BETTS DR, SAPPINO AP Gap junctional communication does not contribute to the interaction between neutrophils and airway epithelial cells CELL COMMUNICATION AND ADHESION 2006 vol. 13 pp. 1-12 SCERRI I, TABARY O, DUDEZ T, JACQUOT J, FOGLIA B, SUTER S, CHANSON M Bird breeder's disease: a rare diagnosis in young children EUROPEAN JOURNAL OF PEDIATRICS 2006 vol. 165 pp. 55-61 STAUFFER E, PACHE JC, RENEVEY F, HANQUINET-GINTER S, GUINAND S, BARAZZONE ARGIROFFO C Decreased blood pressure in NOX1-deficient mice FEBS LETTERS 2006 vol. 580 pp. 497-504 GAVAZZI G, BANFI B, DEFFERT C, FIETTE L, SCHAPPI M, HERRMANN F, KRAUSE KH ATM variants and predisposition to childhood T-lineage acute lymphoblastic leukaemia LEUKEMIA 2006 vol. 20 pp. 526-527 GUMY-PAUSE F, WACKER P, MAILLET P, BETTS DR, SAPPINO AP ATM promoter analysis in childhood lymphoid malignancies: A brief communication LEUKEMIA RESEARCH 2006 vol. 30 pp. 335-337 GUMY-PAUSE F, WACKER P, MAILLET P, BETTS DR, SAPPINO AP Fatal GvHD as a complication of liver transplantation for undetermined fulminant hepatic failure and associated aplastic anemia LIVER TRANSPLANTATION : OFFICIAL PUBLICATION OF THE AMERICAN ASSOCIATION FOR THE STUDY OF LIVER DISEASES AND THE INTERNATIONAL LIVER TRANSPLANTATION SOCIETY 2006 vol. 12(11) pp. 1693-1697 SCHAEPPI MICHELA, BELLI DOMINIQUE, RIMENSBERGER PETER, CHARDOT CHRISTOPHE, GÜRKAN KAYA, TIERCY JEAN-MARIE, OZSAHIN HULYA Neuropsychological problems after paediatric stroke: two year follow-up of Swiss children NEUROPEDIATRICS 2006 vol. 37(1) pp. 13-19 PAVLOVIC J. ET AL. Anesthesia management in a young child with aromatic L-amino acid decarboxylase deficiency PEDIATRIC ANESTHESIA 2006 vol. 16(1) pp. 82-84 VUTSKITS L, MENACHE C, MANZANO S, HAENGGELI CA, KISS J Adrenocortical oncocytoma in a child PEDIATRIC BLOOD & CANCER 2006 vol. 50(3) pp. 718-721 GUMY PAUSE FABIENNE, BONGIOVANNI MASSIMO, WILDHABER BARBARA, JENKINS J, CHARDOT CHRISTOPHE, OZSAHIN AYSE Multiple pulmonary abscesses caused by Legionella pneumophila infection in an infant with croup PEDIATRIC INFECTIOUS DISEASE JOURNAL 2006 vol. 25(8) pp. 753-754 MYERS C, CORBELLI R, SCHRENZEL J, GERVAIX A Santé des adolescents : le rôle essentiel de la collaboration entre santé scolaire et institutions de soins REVUE MEDICALE DE LA SUISSE ROMANDE 2006 vol. 2(69) pp. 1510-1513 BOUVIER P, CAFLISCH M, NARRING F Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function. JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM 2005 vol. 90 pp. 5401-5406 MARTHINET ERIC, BLOC ALAIN, OKA YOSHIMOTO, TANIZAWA YUKIO, WEHRLE-HALLER BERNHARD, BANCILA VICTOR, DUBUIS JEAN-MICHEL, PHILIPPE JACQUES, SCHWITZGEBEL LUSCHER VALERIE The zinc finger-containing transcription factor Gata-4 is expressed in the developing endocrine pancreas and activates glucagon gene expression MOLECULAR ENDOCRINOLOGY 2005 vol. 19 pp. 759-770 RITZ-LASER BEATE, MAMIN ALINE, BRUN THIERRY, AVRIL ISABELLE, SCHWITZGEBEL LUSCHER VALERIE, PHILIPPE JACQUES The first three years of the Swiss neuropaediatric stroke registry (SNPSR) : a population-based study of incidence, symptoms and risk factors NEUROPEDIATRICS 2005 vol. 36 pp. 90-97 STEINLIN M ET AL Use of Swiss paediatric emergency department has grown B. 2002 vol. pp. 325-389 LAUBSCHER B, DONATIELLO C Interaction of connexins with protein partners in the control of channel turnover and gating BIOLOGY OF THE CELL 2002 vol. 94 pp. 445-456 THOMAS MA, HUANG S, COKOJA A, RICCIO O, STAUB O, SUTER S, CHANSON M Treatment of chronic granulomatous disease with myeloblative conditioning and an unmodified hematopoietic allograft : a survey of the European experience. 1985-2000 BLOOD 2002 vol. 100 pp. 4344-4350 SEGER RA, GUNGOR R, BELOHRADSKY PB, BLANCHE S, BORDIGONI P, DI BARTOLOMEO P, FLOOD T, LANDAIS P, MULLER S, PORTA F, SLAVIN S, WULFFRAAT N, ZINTL F,, NAGLER A, OZSAHIN H, CANT A, FISCHER A Reduced connexin43 expression inhibits atherosclerotic lesion formation in low-density lipoprotein receptor-deficient mice CIRCULATION 2002 vol. 107 pp. 1033-1039 KWAK BR, VEILLARD N, PELLI G, MULHAUPT F, JAMES RW, CHANSON M, MACH F Defective activation of c-Src in cystic fibrosis airway epithelial cells results in loss of tumor necrosis factor-alpha-induced gap junction regulation JOURNAL OF BIOLOGICAL CHEMISTRY 2002 vol. 278 pp. 8326-8332 HUANG S, DUDEZ T, SCERRI I, THOMAS MA, GIEPMANS BNG, SUTER S, CHANSON M Characterization of a novel chemotactic factor for neutrophils in the bronchial secretions of patients with cystic fibrosis JOURNAL OF INFECTIOUS DISEASES 2002 vol. 186 pp. 774-781 DUDEZ DS, CHANSON M, SCHLEGEL-HAUETER S, SUTER S An unusual intraorbital abscess in a neonate JOURNAL OF PEDIATRIC OPHTHALMOLOGY AND STRABISMUS 2002 vol. 39 pp. 295-297 FLUSS J, POSFAY-BARBE K, ROSSILLION B, RILLIET B, SUTER S Pharmacological profile of a new, potent, and long-acting gonadotropin-releasing hormone antagonist : degarelix JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS 2002 vol. 301 pp. 95-102 BROQUA P, RIVIERE PJ, CONN PM, RIVIER JE, AUBERT ML, JUNIEN JL Research's domains