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De Novo Heterozygou...
De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes
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- Concepcion Gil-Rodriguez, Maria (författare)
- University of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain
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- Deardorff, Matthew A. (författare)
- Childrens Hospital Philadelphia, PA 19104 USA; University of Penn, PA 19104 USA
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- Ansari, Morad (författare)
- University of Edinburgh, Scotland
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- Tan, Christopher A. (författare)
- University of Chicago, IL 60637 USA
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- Parenti, Ilaria (författare)
- Medical University of Lubeck, Germany; University of Milan, Italy
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- Baquero-Montoya, Carolina (författare)
- University of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain; Hospital Pablo Tobon Uribe, Colombia
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- Ousager, Lilian B. (författare)
- Odense University Hospital, Denmark
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- Puisac, Beatriz (författare)
- University of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain
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- Hernandez-Marcos, Maria (författare)
- University of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain
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- Esperanza Teresa-Rodrigo, Maria (författare)
- University of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain
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- Marcos-Alcalde, Inigo (författare)
- Centre Biol Molecular Severo Ochoa CSIC UAM, Spain
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- Wesselink, Jan-Jaap (författare)
- Biomol Informat SL Campus UAM, Spain
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- Lusa-Bernal, Silvia (författare)
- Biomol Informat SL Campus UAM, Spain
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- Bijlsma, Emilia K. (författare)
- Leiden University, Netherlands
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- Braunholz, Diana (författare)
- Medical University of Lubeck, Germany
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- Bueno-Martinez, Ines (författare)
- University of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain; Hospital Clin University of Lozano Blesa, Spain
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- Clark, Dinah (författare)
- Childrens Hospital Philadelphia, PA 19104 USA
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- Cooper, Nicola S. (författare)
- Birmingham Womens Hospital, England
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- Curry, Cynthia J. (författare)
- University of Calif San Francisco, CA USA
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- Fisher, Richard (författare)
- James Cook University, England
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- Fryer, Alan (författare)
- Liverpool Womens Hospital, England; Alder Hey Childrens Hospital, England
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- Ganesh, Jaya (författare)
- Childrens Hospital Philadelphia, PA 19104 USA; University of Penn, PA 19104 USA
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- Gervasini, Cristina (författare)
- University of Milan, Italy
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- Gillessen-Kaesbach, Gabriele (författare)
- Medical University of Lubeck, Germany
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- Guo, Yiran (författare)
- Childrens Hospital Philadelphia, PA 19104 USA
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- Hakonarson, Hakon (författare)
- University of Penn, PA 19104 USA; Childrens Hospital Philadelphia, PA 19104 USA
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- Hopkin, Robert J. (författare)
- Cincinnati Childrens Hospital Medical Centre, OH 45229 USA
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- Kaur, Maninder (författare)
- Childrens Hospital Philadelphia, PA 19104 USA
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- Keating, Brendan J. (författare)
- University of Penn, PA 19104 USA; Childrens Hospital Philadelphia, PA 19104 USA
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- Kibaek, Maria (författare)
- HC Andersen Childrens Hospital, Denmark
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- Kinning, Esther (författare)
- So Gen Hospital, Scotland
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- Kleefstra, Tjitske (författare)
- Radboud University of Nijmegen, Netherlands
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- Kline, Antonie D. (författare)
- Greater Baltimore Medical Centre, MD USA
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- Kuchinskaya, Ekaterina (författare)
- Linköpings universitet,Avdelningen för cellbiologi,Hälsouniversitetet
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- Larizza, Lidia (författare)
- Karolinska Institutet
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- Li, Yun R. (författare)
- Childrens Hospital Philadelphia, PA 19104 USA; University of Penn, PA 19104 USA
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- Liu, Xuanzhu (författare)
- BGI Shenzhen, Peoples R China
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- Mariani, Milena (författare)
- University of Milano Bicocca, Italy
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- Picker, Jonathan D. (författare)
- Boston Childrens Hospital, MA USA; Boston Childrens Hospital, MA USA
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- Pie, Angeles (författare)
- University of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain
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- Pozojevic, Jelena (författare)
- Medical University of Lubeck, Germany
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- Queralt, Ethel (författare)
- Institute Invest Biomed Bellvitge IDIBELL LHospitalet, Spain
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- Richer, Julie (författare)
- Childrens Hospital Eastern Ontario, Canada; University of Ottawa, Canada
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- Roeder, Elizabeth (författare)
- University of Texas San Antonio, TX USA
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- Sinha, Anubha (författare)
- Birmingham Womens Hospital, England
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- Scott, Richard H. (författare)
- Great Ormond St Hospital Sick Children, England; UCL Institute Child Heatlh, England
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- So, Joyce (författare)
- CAMH, Canada; University of Health Network, Canada; Mt Sinai Hospital, Canada; University of Toronto, Canada
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- Wusik, Katherine A. (författare)
- Cincinnati Childrens Hospital Medical Centre, OH 45229 USA
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- Wilson, Louise (författare)
- Great Ormond St Hospital Sick Children, England
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- Zhang, Jianguo (författare)
- BGI Shenzhen, Peoples R China
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- Gomez-Puertas, Paulino (författare)
- Centre Biol Molecular Severo Ochoa CSIC UAM, Spain
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- Casale, Cesar H. (författare)
- National University of Rio Cuarto, Argentina
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- Stroem, Lena (författare)
- Karolinska Institute, Sweden
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- Selicorni, Angelo (författare)
- University of Milano Bicocca, Italy
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- Ramos, Feliciano J. (författare)
- University of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain; Hospital Clin University of Lozano Blesa, Spain
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- Jackson, Laird G. (författare)
- Drexel University, PA 19104 USA
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- Krantz, Ian D. (författare)
- Childrens Hospital Philadelphia, PA 19104 USA; University of Penn, PA 19104 USA
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- Das, Soma (författare)
- University of Chicago, IL 60637 USA
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- Hennekam, Raoul C. M. (författare)
- University of Amsterdam, Netherlands
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- Kaiser, Frank J. (författare)
- Medical University of Lubeck, Germany
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- FitzPatrick, David R. (författare)
- University of Edinburgh, Scotland
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- Pie, Juan (författare)
- University of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain
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(creator_code:org_t)
- 2015-03-17
- 2015
- Engelska.
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Ingår i: Human Mutation. - : Wiley: 12 months. - 1059-7794 .- 1098-1004. ; 36:4, s. 454-462
- Relaterad länk:
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https://digital.csic...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes. To date, only the clinical features from a single CdLS patient with SMC3 mutation has been published. Here, we report the efforts of an international research and clinical collaboration to provide clinical comparison of 16 patients with CdLS-like features caused by mutations in SMC3. Modeling of the mutation effects on protein structure suggests a dominant-negative effect on the multimeric cohesin complex. When compared with typical CdLS, many SMC3-associated phenotypes are also characterized by postnatal microcephaly but with a less distinctive craniofacial appearance, a milder prenatal growth retardation that worsens in childhood, few congenital heart defects, and an absence of limb deficiencies. While most mutations are unique, two unrelated affected individuals shared the same mutation but presented with different phenotypes. This work confirms that de novo SMC3 mutations account for approximate to 1%-2% of CdLS-like phenotypes.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
Nyckelord
- Cornelia de Lange syndrome; CdLS; SMC3; cohesin complex; CdLS-overlapping phenotypes; CdLS-like
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- ref (ämneskategori)
- art (ämneskategori)
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Concepcion Gil-R ...
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Deardorff, Matth ...
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Ansari, Morad
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Tan, Christopher ...
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Parenti, Ilaria
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Baquero-Montoya, ...
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visa fler...
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Ousager, Lilian ...
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Puisac, Beatriz
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Hernandez-Marcos ...
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Esperanza Teresa ...
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Marcos-Alcalde, ...
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Wesselink, Jan-J ...
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Lusa-Bernal, Sil ...
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Bijlsma, Emilia ...
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Braunholz, Diana
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Bueno-Martinez, ...
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Clark, Dinah
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Cooper, Nicola S ...
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Curry, Cynthia J ...
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Fisher, Richard
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Fryer, Alan
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Ganesh, Jaya
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Gervasini, Crist ...
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Gillessen-Kaesba ...
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Guo, Yiran
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Hakonarson, Hako ...
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Hopkin, Robert J ...
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Kaur, Maninder
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Keating, Brendan ...
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Kibaek, Maria
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Kinning, Esther
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Kleefstra, Tjits ...
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Kline, Antonie D ...
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Kuchinskaya, Eka ...
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Larizza, Lidia
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Li, Yun R.
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Liu, Xuanzhu
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Mariani, Milena
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Picker, Jonathan ...
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Pie, Angeles
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Pozojevic, Jelen ...
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Queralt, Ethel
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Richer, Julie
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Roeder, Elizabet ...
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Sinha, Anubha
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Scott, Richard H ...
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So, Joyce
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Wusik, Katherine ...
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Wilson, Louise
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Zhang, Jianguo
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Gomez-Puertas, P ...
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Casale, Cesar H.
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Stroem, Lena
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Selicorni, Angel ...
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Ramos, Feliciano ...
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Jackson, Laird G ...
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Krantz, Ian D.
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Das, Soma
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Hennekam, Raoul ...
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Kaiser, Frank J.
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FitzPatrick, Dav ...
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Pie, Juan
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- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
- Artiklar i publikationen
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Human Mutation
- Av lärosätet
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Linköpings universitet
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Karolinska Institutet