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  1. AU="Cordeiro Isabel"
  2. AU="Francesco Lazzerini"
  3. AU="Alain Putot"
  4. AU="Moustakim, Hamza"
  5. AU="Lavoie, Julie"
  6. AU="Wahlen, Bianca M"
  7. AU="Iqra Rasheed, -"
  8. AU="Rincon-Arevalo, Hector"
  9. AU="Kirsch, L"
  10. AU="Yurong Qiao"
  11. AU="Shapera, Shane"
  12. AU="O'Connor, Richard J"
  13. AU="Li, Zhixing"
  14. AU="Fender, Christian"
  15. AU="Frangou, Nikoletta"
  16. AU="Chan, Curtis"
  17. AU="Yang, Shilun"
  18. AU="Viswanathan, Thiruselvam"
  19. AU="Rexach, Irene"
  20. AU="CUI Yongchun"

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  1. Artikel ; Online: A new intellectual disability syndrome with digital anomalies.

    Dias, Patrícia / Medeira, Ana / Cordeiro, Isabel

    Clinical dysmorphology

    2012  Band 21, Heft 4, Seite(n) 222–225

    Mesh-Begriff(e) Child ; Child, Preschool ; Facies ; Fingers/abnormalities ; Fingers/diagnostic imaging ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability/complications ; Male ; Radiography ; Syndrome ; Toes/abnormalities ; Toes/diagnostic imaging
    Sprache Englisch
    Erscheinungsdatum 2012-10
    Erscheinungsland England
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 1121482-x
    ISSN 1473-5717 ; 0962-8827
    ISSN (online) 1473-5717
    ISSN 0962-8827
    DOI 10.1097/MCD.0b013e32835701b9
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Buch ; Konferenzbeitrag: Museu do Chiado

    Cordeiro, Isabel / Lapa, Pedro

    arte portuguesa, 1850 - 1950

    1994  

    Körperschaft Museu do Chiado
    Veranstaltung/Kongress Ausstellung Museu do Chiado (, Lissabon)
    Verfasserangabe [coord. ed. Isabel Cordeiro. Textos e investigação Pedro Lapa ...]
    Sprache Portugiesisch
    Umfang 380 S, zahlr. Ill, 31 cm
    Verlag Inst. Português de Museus
    Erscheinungsort Lisboa
    Dokumenttyp Buch ; Konferenzbeitrag
    Anmerkung Catalog of an exhibition held at the Museu do Chiado, Lisbon, Portugal ; Includes bibliographical references (p. 373-374) and index
    ISBN 9728137028 ; 9789728137021
    Datenquelle Ehemaliges Sondersammelgebiet Küsten- und Hochseefischerei

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  3. Artikel ; Online: Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm.

    Navarro-Costa, Paulo / Nogueira, Paulo / Carvalho, Marta / Leal, Fernanda / Cordeiro, Isabel / Calhaz-Jorge, Carlos / Gonçalves, João / Plancha, Carlos E

    Human reproduction (Oxford, England)

    2010  Band 25, Heft 10, Seite(n) 2647–2654

    Abstract: Background: Successful gametogenesis requires the establishment of an appropriate epigenetic state in developing germ cells. Nevertheless, an association between abnormal spermatogenesis and epigenetic disturbances in germline-specific genes remains to ... ...

    Abstract Background: Successful gametogenesis requires the establishment of an appropriate epigenetic state in developing germ cells. Nevertheless, an association between abnormal spermatogenesis and epigenetic disturbances in germline-specific genes remains to be demonstrated.
    Methods: In this study, the DNA methylation pattern of the promoter CpG island (CGI) of two germline regulator genes--DAZL and DAZ, was characterized by bisulphite genomic sequencing in quality-fractioned ejaculated sperm populations from normozoospermic (NZ) and oligoasthenoteratozoospermic (OAT) men.
    Results: OAT patients display increased methylation defects in the DAZL promoter CGI when compared with NZ controls. Such differences are recorded when analyzing sperm fractions enriched either in normal or defective germ cells (P< 0.001 in both cases). Significant differences in DNA methylation profiles are also observable when comparing the qualitatively distinct germ cell fractions inside the NZ and OAT groups (P= 0.003 and P= 0.007, respectively). Contrastingly, the unmethylation pattern of the DAZ promoter CGI remains correctly established in all experimental groups.
    Conclusions: An association between disrupted DNA methylation of a key spermatogenesis gene and abnormal human sperm is described here for the first time. These results suggest that incorrect epigenetic marks in germline genes may be correlated with male gametogenic defects.
    Mesh-Begriff(e) Adult ; Asthenozoospermia/genetics ; CpG Islands ; DNA Methylation ; Deleted in Azoospermia 1 Protein ; Epigenomics ; Female ; Humans ; Infertility, Male/genetics ; Male ; Middle Aged ; Oligospermia/genetics ; Promoter Regions, Genetic ; RNA-Binding Proteins/genetics ; Spermatogenesis/genetics ; Spermatozoa/pathology
    Chemische Substanzen DAZ1 protein, human ; DAZL protein, human ; Deleted in Azoospermia 1 Protein ; RNA-Binding Proteins
    Sprache Englisch
    Erscheinungsdatum 2010-08-04
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 632776-x
    ISSN 1460-2350 ; 0268-1161 ; 1477-741X
    ISSN (online) 1460-2350
    ISSN 0268-1161 ; 1477-741X
    DOI 10.1093/humrep/deq200
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel: Familial stenosis of the pulmonary artery branches with a JAG1 mutation.

    Sousa, Ana Berta / Medeira, Ana / Kamath, Binita M / Spinner, Nancy B / Cordeiro, Isabel

    Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology

    2006  Band 25, Heft 4, Seite(n) 447–452

    Abstract: Although most congenital heart defects are isolated abnormalities of embryonic development, with little genetic contribution, a small number are components of syndromes. In such cases, an accurate diagnosis has important implications for individual ... ...

    Abstract Although most congenital heart defects are isolated abnormalities of embryonic development, with little genetic contribution, a small number are components of syndromes. In such cases, an accurate diagnosis has important implications for individual prognosis and familial genetic counseling. Alagille syndrome (AGS) is a dominantly inherited multisystem developmental disorder, which primarily affects the liver, heart, eyes, skeleton, and face. In recent years, the identification of the AGS gene has drawn attention to the existence of subclinical carriers, and broadened the spectrum of phenotypical variation associated with this syndrome. The authors present a case of mother and son with benign stenosis of the pulmonary artery branches. Subtle facial aspects suggested the diagnosis of AGS, which was confirmed by molecular analysis. Relevant clinical investigations and diagnostic implications are discussed.
    Mesh-Begriff(e) Arterial Occlusive Diseases/genetics ; Calcium-Binding Proteins/genetics ; Child ; Humans ; Intercellular Signaling Peptides and Proteins/genetics ; Jagged-1 Protein ; Male ; Membrane Proteins/genetics ; Mutation ; Pulmonary Artery ; Serrate-Jagged Proteins
    Chemische Substanzen Calcium-Binding Proteins ; Intercellular Signaling Peptides and Proteins ; JAG1 protein, human ; Jagged-1 Protein ; Membrane Proteins ; Serrate-Jagged Proteins
    Sprache Portugiesisch
    Erscheinungsdatum 2006-04
    Erscheinungsland Portugal
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 632718-7
    ISSN 0870-2551 ; 0304-4750
    ISSN 0870-2551 ; 0304-4750
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel ; Online: First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.

    Rauen, Katherine A / Alsaegh, Abeer / Ben-Shachar, Shay / Berman, Yemima / Blakeley, Jaishri / Cordeiro, Isabel / Elgersma, Ype / Evans, D Gareth / Fisher, Michael J / Frayling, Ian M / George, Joshi / Huson, Susan M / Kerr, Bronwyn / Khire, Uday / Korf, Bruce / Legius, Eric / Messiaen, Ludwine / van Minkelen, Rick / Nampoothiri, Sheela /
    Ngeow, Joanne / Parada, Luis F / Phadke, Shubha / Pillai, Ashok / Plotkin, Scott R / Puri, Ratna / Raji, Anup / Ramesh, Vijaya / Ratner, Nancy / Shankar, Suma P / Sharda, Sheetal / Tambe, Anant / Vikkula, Miikka / Widemann, Brigitte C / Wolkenstein, Pierre / Upadhyaya, Meena

    American journal of medical genetics. Part A

    2019  Band 179, Heft 6, Seite(n) 1091–1097

    Abstract: The neurofibromatoses, which include neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis, are a group of syndromes characterized by tumor growth in the nervous system. The RASopathies are a group of syndromes caused by ... ...

    Abstract The neurofibromatoses, which include neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis, are a group of syndromes characterized by tumor growth in the nervous system. The RASopathies are a group of syndromes caused by germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. The RASopathies include NF1, Noonan syndrome, Noonan syndrome with multiple lentigines, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, capillary malformation arterio-venous malformation syndrome, and SYNGAP1 autism. Due to their common underlying pathogenetic etiology, all these syndromes have significant phenotypic overlap of which one common feature include a predisposition to tumors, which may be benign or malignant. Together as a group, they represent one of the most common multiple congenital anomaly syndromes estimating to affect approximately one in 1000 individuals worldwide. The subcontinent of India represents one of the largest populations in the world, yet remains underserved from an aspect of clinical genetics services. In an effort to bridge this gap, the First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and Advances of New Therapeutics was held in Kochi, Kerala, India. These proceedings chronicle this timely and topical international symposium directed at discussing the best practices and therapies for individuals with neurofibromatoses and RASopathies.
    Mesh-Begriff(e) Biomarkers ; Disease Management ; Genetic Association Studies/methods ; Genetic Predisposition to Disease ; Humans ; Mitogen-Activated Protein Kinases/genetics ; Mitogen-Activated Protein Kinases/metabolism ; Molecular Diagnostic Techniques ; Molecular Targeted Therapy ; Neurofibromatoses/diagnosis ; Neurofibromatoses/etiology ; Neurofibromatoses/therapy ; Signal Transduction ; Translational Medical Research ; ras Proteins/genetics ; ras Proteins/metabolism
    Chemische Substanzen Biomarkers ; Mitogen-Activated Protein Kinases (EC 2.7.11.24) ; ras Proteins (EC 3.6.5.2)
    Sprache Englisch
    Erscheinungsdatum 2019-03-25
    Erscheinungsland United States
    Dokumenttyp Congress ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.61125
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Volltext online

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  6. Artikel ; Online: Reduced elastogenesis

    Morimoto Marie / Yu Zhongxin / Stenzel Peter / Clewing J / Najafian Behzad / Mayfield Christy / Hendson Glenda / Weinkauf Justin G / Gormley Andrew K / Parham David M / Ponniah Umakumaran / André Jean-Luc / Asakura Yumi / Basiratnia Mitra / Bogdanović Radovan / Bokenkamp Arend / Bonneau Dominique / Buck Anna / Charrow Joel /
    Cochat Pierre / Cordeiro Isabel / Deschenes Georges / Fenkçi M / Frange Pierre / Fründ Stefan / Fryssira Helen / Guillen-Navarro Encarna / Keller Kory / Kirmani Salman / Kobelka Christine / Lamfers Petra / Levtchenko Elena / Lewis David B / Massella Laura / McLeod D / Milford David V / Nobili François / Saraiva Jorge M / Semerci C / Shoemaker Lawrence / Stajić Nataša / Stein Anja / Taha Doris / Wand Dorothea / Zonana Jonathan / Lücke Thomas / Boerkoel Cornelius F

    Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p

    a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

    2012  Band 70

    Abstract: Abstract Background Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of ... ...

    Abstract Abstract Background Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1). However, the mechanism by which the vascular and pulmonary disease arises in SIOD remains unknown. Methods We reviewed the records of 65 patients with SMARCAL1 mutations. Molecular and immunohistochemical analyses were conducted on autopsy tissue from 4 SIOD patients. Results Thirty-two of 63 patients had signs of arteriosclerosis and 3 of 51 had signs of emphysema. The arteriosclerosis was characterized by intimal and medial hyperplasia, smooth muscle cell hyperplasia and fragmented and disorganized elastin fibers, and the pulmonary disease was characterized by panlobular enlargement of air spaces. Consistent with a cell autonomous disorder, SMARCAL1 was expressed in arterial and lung tissue, and both the aorta and lung of SIOD patients had reduced expression of elastin and alterations in the expression of regulators of elastin gene expression. Conclusions This first comprehensive study of the vascular and pulmonary complications of SIOD shows that these commonly cause morbidity and mortality and might arise from impaired elastogenesis. Additionally, the effect of SMARCAL1 deficiency on elastin expression provides a model for understanding other features of SIOD.
    Schlagwörter Schimke immuno-osseous dysplasia ; SMARCAL1 ; Elastin ; Vascular disease ; Pulmonary emphysema ; Medicine ; R
    Thema/Rubrik (Code) 610
    Sprache Englisch
    Erscheinungsdatum 2012-09-01T00:00:00Z
    Verlag BMC
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  7. Artikel ; Online: Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

    Morimoto, Marie / Yu, Zhongxin / Stenzel, Peter / Clewing, J Marietta / Najafian, Behzad / Mayfield, Christy / Hendson, Glenda / Weinkauf, Justin G / Gormley, Andrew K / Parham, David M / Ponniah, Umakumaran / André, Jean-Luc / Asakura, Yumi / Basiratnia, Mitra / Bogdanović, Radovan / Bokenkamp, Arend / Bonneau, Dominique / Buck, Anna / Charrow, Joel /
    Cochat, Pierre / Cordeiro, Isabel / Deschenes, Georges / Fenkçi, M Semin / Frange, Pierre / Fründ, Stefan / Fryssira, Helen / Guillen-Navarro, Encarna / Keller, Kory / Kirmani, Salman / Kobelka, Christine / Lamfers, Petra / Levtchenko, Elena / Lewis, David B / Massella, Laura / McLeod, D Ross / Milford, David V / Nobili, François / Saraiva, Jorge M / Semerci, C Nur / Shoemaker, Lawrence / Stajić, Nataša / Stein, Anja / Taha, Doris / Wand, Dorothea / Zonana, Jonathan / Lücke, Thomas / Boerkoel, Cornelius F

    Orphanet journal of rare diseases

    2012  Band 7, Seite(n) 70

    Abstract: Background: Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, ...

    Abstract Background: Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1). However, the mechanism by which the vascular and pulmonary disease arises in SIOD remains unknown.
    Methods: We reviewed the records of 65 patients with SMARCAL1 mutations. Molecular and immunohistochemical analyses were conducted on autopsy tissue from 4 SIOD patients.
    Results: Thirty-two of 63 patients had signs of arteriosclerosis and 3 of 51 had signs of emphysema. The arteriosclerosis was characterized by intimal and medial hyperplasia, smooth muscle cell hyperplasia and fragmented and disorganized elastin fibers, and the pulmonary disease was characterized by panlobular enlargement of air spaces. Consistent with a cell autonomous disorder, SMARCAL1 was expressed in arterial and lung tissue, and both the aorta and lung of SIOD patients had reduced expression of elastin and alterations in the expression of regulators of elastin gene expression.
    Conclusions: This first comprehensive study of the vascular and pulmonary complications of SIOD shows that these commonly cause morbidity and mortality and might arise from impaired elastogenesis. Additionally, the effect of SMARCAL1 deficiency on elastin expression provides a model for understanding other features of SIOD.
    Mesh-Begriff(e) Adult ; Arteriosclerosis/genetics ; Arteriosclerosis/physiopathology ; Autopsy ; Child ; Child, Preschool ; DNA Helicases/genetics ; Emphysema/genetics ; Emphysema/physiopathology ; Female ; Humans ; Immunohistochemistry ; Immunologic Deficiency Syndromes/genetics ; Immunologic Deficiency Syndromes/physiopathology ; Male ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/physiopathology ; Osteochondrodysplasias/genetics ; Osteochondrodysplasias/physiopathology ; Primary Immunodeficiency Diseases ; Pulmonary Embolism/genetics ; Pulmonary Embolism/physiopathology
    Chemische Substanzen SMARCAL1 protein, human (EC 2.7.7.-) ; DNA Helicases (EC 3.6.4.-)
    Sprache Englisch
    Erscheinungsdatum 2012-09-22
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ISSN 1750-1172
    ISSN (online) 1750-1172
    DOI 10.1186/1750-1172-7-70
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  8. Artikel ; Online: The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

    Nikkel, Sarah M / Dauber, Andrew / de Munnik, Sonja / Connolly, Meghan / Hood, Rebecca L / Caluseriu, Oana / Hurst, Jane / Kini, Usha / Nowaczyk, Malgorzata J M / Afenjar, Alexandra / Albrecht, Beate / Allanson, Judith E / Balestri, Paolo / Ben-Omran, Tawfeg / Brancati, Francesco / Cordeiro, Isabel / da Cunha, Bruna Santos / Delaney, Louisa A / Destrée, Anne /
    Fitzpatrick, David / Forzano, Francesca / Ghali, Neeti / Gillies, Greta / Harwood, Katerina / Hendriks, Yvonne M C / Héron, Delphine / Hoischen, Alexander / Honey, Engela Magdalena / Hoefsloot, Lies H / Ibrahim, Jennifer / Jacob, Claire M / Kant, Sarina G / Kim, Chong Ae / Kirk, Edwin P / Knoers, Nine V A M / Lacombe, Didier / Lee, Chung / Lo, Ivan F M / Lucas, Luiza S / Mari, Francesca / Mericq, Veronica / Moilanen, Jukka S / Møller, Sanne Traasdahl / Moortgat, Stephanie / Pilz, Daniela T / Pope, Kate / Price, Susan / Renieri, Alessandra / Sá, Joaquim / Schoots, Jeroen / Silveira, Elizabeth L / Simon, Marleen E H / Slavotinek, Anne / Temple, I Karen / van der Burgt, Ineke / de Vries, Bert B A / Weisfeld-Adams, James D / Whiteford, Margo L / Wierczorek, Dagmar / Wit, Jan M / Yee, Connie Fung On / Beaulieu, Chandree L / White, Sue M / Bulman, Dennis E / Bongers, Ernie / Brunner, Han / Feingold, Murray / Boycott, Kym M

    Orphanet journal of rare diseases

    2013  Band 8, Seite(n) 63

    Abstract: Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. ...

    Abstract Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome.
    Methods and results: Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from 2 to 52 years. The facial phenotype and expressive language impairments were defining features within the group. Height measurements were typically between minus two and minus four standard deviations, with occipitofrontal circumferences usually within the average range. Thirty-three of the subjects (63%) had at least one major anomaly requiring medical intervention. We did not observe any specific phenotype-genotype correlations.
    Conclusions: This large cohort of individuals with molecularly confirmed FHS has allowed us to better delineate the clinical features of this rare but classic genetic syndrome, thereby facilitating the development of management protocols.
    Mesh-Begriff(e) Abnormalities, Multiple/genetics ; Adenosine Triphosphatases/genetics ; Adolescent ; Adult ; Child ; Child, Preschool ; Craniofacial Abnormalities/genetics ; Exons/genetics ; Female ; Growth Disorders/genetics ; Heart Septal Defects, Ventricular/genetics ; Humans ; Male ; Middle Aged ; Mutation ; Young Adult
    Chemische Substanzen Adenosine Triphosphatases (EC 3.6.1.-) ; SRCAP protein, human (EC 3.6.4.-)
    Sprache Englisch
    Erscheinungsdatum 2013-04-27
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ISSN 1750-1172
    ISSN (online) 1750-1172
    DOI 10.1186/1750-1172-8-63
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  9. Artikel: Association of migraine-like headaches with Schimke immuno-osseous dysplasia.

    Kilic, Sara Sebnem / Donmez, Osman / Sloan, Emily A / Elizondo, Leah I / Huang, Cheng / André, Jean-Luc / Bogdanovic, Radovan / Cockfield, Sandra / Cordeiro, Isabel / Deschenes, Georges / Fründ, Stefan / Kaitila, Ilkka / Lama, Giuliana / Lamfers, Petra / Lücke, Thomas / Milford, David V / Najera, Lydia / Rodrigo, Francisco / Saraiva, Jorge M /
    Schmidt, Beate / Smith, Graham C / Stajic, Nastasa / Stein, Anja / Taha, Doris / Wand, Dorothea / Armstrong, Dawna / Boerkoel, Cornelius F

    American journal of medical genetics. Part A

    2005  Band 135, Heft 2, Seite(n) 206–210

    Abstract: Schimke immuno-osseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia, nephropathy, and T-cell deficiency. SIOD is caused by mutations in the putative chromatin remodeling protein SMARCAL1. We report an 8-year-old boy with SIOD and ... ...

    Abstract Schimke immuno-osseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia, nephropathy, and T-cell deficiency. SIOD is caused by mutations in the putative chromatin remodeling protein SMARCAL1. We report an 8-year-old boy with SIOD and recurrent, severe, refractory migraine-like headaches. Through a retrospective questionnaire-based study, we found that refractory and severely disabling migraine-like headaches occur in nearly half of SIOD patients. We have also found that the vasodilator minoxidil provided symptomatic relief for one patient. We hypothesize that these headaches may arise from an intrinsic vascular, neuroimmune, or neurovascular defect resulting from loss of SMARCAL1 function.
    Mesh-Begriff(e) Bone Diseases, Developmental/complications ; Bone Diseases, Developmental/metabolism ; Bone Diseases, Developmental/pathology ; Child ; DNA Helicases/analysis ; DNA Helicases/genetics ; Headache/complications ; Headache/pathology ; Humans ; Immune System Diseases/pathology ; Immunohistochemistry ; Male ; Migraine Disorders/complications ; Migraine Disorders/pathology ; Mutation ; Retrospective Studies ; Surveys and Questionnaires
    Chemische Substanzen SMARCAL1 protein, human (EC 2.7.7.-) ; DNA Helicases (EC 3.6.4.-)
    Sprache Englisch
    Erscheinungsdatum 2005-05-09
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 2108614-X
    ISSN 1552-4825
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.30692
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  10. Artikel: Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

    Boerkoel, Cornelius F / Takashima, Hiroshi / John, Joy / Yan, Jiong / Stankiewicz, Pawel / Rosenbarker, Lisa / André, Jean-Luc / Bogdanovic, Radovan / Burguet, Antoine / Cockfield, Sandra / Cordeiro, Isabel / Fründ, Stefan / Illies, Friederike / Joseph, Mark / Kaitila, Ilkka / Lama, Giuliana / Loirat, Chantal / McLeod, D Ross / Milford, David V /
    Petty, Elizabeth M / Rodrigo, Francisco / Saraiva, Jorge M / Schmidt, Beate / Smith, Graham C / Spranger, Jürgen / Stein, Anja / Thiele, Hannelore / Tizard, Jane / Weksberg, Rosanna / Lupski, James R / Stockton, David W

    Nature genetics

    2002  Band 30, Heft 2, Seite(n) 215–220

    Abstract: Schimke immuno-osseous dysplasia (SIOD, MIM 242900) is an autosomal-recessive pleiotropic disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Using genome-wide linkage mapping and a ... ...

    Abstract Schimke immuno-osseous dysplasia (SIOD, MIM 242900) is an autosomal-recessive pleiotropic disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Using genome-wide linkage mapping and a positional candidate approach, we determined that mutations in SMARCAL1 (SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), are responsible for SIOD. Through analysis of data from persons with SIOD in 26 unrelated families, we observed that affected individuals from 13 of 23 families with severe disease had two alleles with nonsense, frameshift or splicing mutations, whereas affected individuals from 3 of 3 families with milder disease had a missense mutation on each allele. These observations indicate that some missense mutations allow retention of partial SMARCAL1 function and thus cause milder disease.
    Mesh-Begriff(e) Adolescent ; Adult ; Alleles ; Amino Acid Sequence ; Animals ; Base Sequence ; Child ; Child, Preschool ; Consanguinity ; Conserved Sequence ; DNA/genetics ; DNA Helicases/genetics ; DNA Mutational Analysis ; Female ; Genes, Recessive ; Humans ; Immunologic Deficiency Syndromes/genetics ; Male ; Molecular Sequence Data ; Mutation ; Mutation, Missense ; Osteochondrodysplasias/genetics ; Pedigree ; Phenotype ; Renal Insufficiency/genetics ; Sequence Homology, Amino Acid ; Species Specificity ; T-Lymphocytes/immunology
    Chemische Substanzen DNA (9007-49-2) ; SMARCAL1 protein, human (EC 2.7.7.-) ; DNA Helicases (EC 3.6.4.-)
    Sprache Englisch
    Erscheinungsdatum 2002-02
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/ng821
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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