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Literature DB >> 15342710

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.

W Borozdin¹, D Boehm, M Leipoldt, C Wilhelm, W Reardon, J Clayton-Smith, K Becker, H Mühlendyck, R Winter, O Giray, F Silan, J Kohlhase.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2004 PMID： 15342710 PMCID： PMC1735888 DOI： 10.1136/jmg.2004.019901

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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23 in total

1. Frequency of progranulin mutations in a German cohort of 79 frontotemporal dementia patients.

Authors: Johannes Carolus Magnus Schlachetzki; Klaus Schmidtke; Jan Beckervordersandforth; Wiktor Borozdin; Christian Wilhelm; Michael Hüll; Jürgen Kohlhase
Journal: J Neurol Date: 2009-07-19 Impact factor: 4.849

2. A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases.

Authors: Nadja Chmel; Sorina Danescu; Amelie Gruler; Dimitra Kiritsi; Leena Bruckner-Tuderman; Alexander Kreuter; Jürgen Kohlhase; Cristina Has
Journal: J Invest Dermatol Date: 2015-06-17 Impact factor: 8.551

3. Immunoexpression of SALL4 in Wilms tumors and developing kidney.

Authors: Jeremy Deisch; Jack Raisanen; Dinesh Rakheja
Journal: Pathol Oncol Res Date: 2011-01-22 Impact factor: 3.201

4. A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.

Authors: Jan Miertus; Wiktor Borozdin; Vladimir Frecer; Giorgio Tonini; Sara Bertok; Antonio Amoroso; Stanislav Miertus; Jürgen Kohlhase
Journal: Hum Genet Date: 2006-01-03 Impact factor: 4.132

5. Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

Authors: Izak J Bisschoff; Christine Zeschnigk; Denise Horn; Brigitte Wellek; Angelika Rieß; Maja Wessels; Patrick Willems; Peter Jensen; Andreas Busche; Jens Bekkebraten; Maya Chopra; Hanne Dahlgaard Hove; Christina Evers; Ketil Heimdal; Ann-Sophie Kaiser; Erdmut Kunstmann; Kristina Lagerstedt Robinson; Maja Linné; Patricia Martin; James McGrath; Winnie Pradel; Katrina E Prescott; Bernd Roesler; Gorazd Rudolf; Ulrike Siebers-Renelt; Nataliya Tyshchenko; Dagmar Wieczorek; Gerhard Wolff; William B Dobyns; Deborah J Morris-Rosendahl
Journal: Hum Mutat Date: 2012-10-17 Impact factor: 4.878

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.

1. Frequency of progranulin mutations in a German cohort of 79 frontotemporal dementia patients.

2. A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases.

3. Immunoexpression of SALL4 in Wilms tumors and developing kidney.

4. A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.

5. Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

6. Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.

7. [Hereditary Alzheimer's disease with amyloid angiopathy caused by amyloid precursor protein locus].

8. Sex determination of Microtus mandarinus mandarinus is independent of Sry gene.

9. CUGC for syndromic microphthalmia including next-generation sequencing-based approaches.

10. A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis.