Literature DB >> 26210634

T (brachyury) is linked to a Mendelian form of neural tube defects in humans.

Ranad Shaheen1, Essam Alshail2, Ahmed Alaqeel1, Shinu Ansari1, Farah Hindieh1, Fowzan S Alkuraya3,4.   

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Year:  2015        PMID： 26210634     DOI： 10.1007/s00439-015-1589-7

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  7 in total

1.  Molecular and embryological characterization of a new transgene-induced null allele of mouse Brachyury locus.

Authors:  K Abe; K Yamamura; M Suzuki
Journal:  Mamm Genome       Date:  2000-03       Impact factor: 2.957

Review 2.  Neural-tube defects.

Authors:  L D Botto; C A Moore; M J Khoury; J D Erickson
Journal:  N Engl J Med       Date:  1999-11-11       Impact factor: 91.245

3.  Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal.

Authors:  A V Postma; M Alders; M Sylva; C M Bilardo; E Pajkrt; R R van Rijn; S Schulte-Merker; S Bulk; S Stefanovic; A Ilgun; P Barnett; M M A M Mannens; A F M Moorman; R J Oostra; M C van Maarle
Journal:  J Med Genet       Date:  2013-11-19       Impact factor: 6.318

4.  Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma.

Authors:  Michael J Kelley; Jianxin Shi; Bari Ballew; Paula L Hyland; Wen-Qing Li; Melissa Rotunno; David A Alcorta; Norbert J Liebsch; Jason Mitchell; Sara Bass; David Roberson; Joseph Boland; Michael Cullen; Ji He; Laurie Burdette; Meredith Yeager; Stephen J Chanock; Dilys M Parry; Alisa M Goldstein; Xiaohong R Yang
Journal:  Hum Genet       Date:  2014-07-04       Impact factor: 4.132

5.  The mammalian cervical vertebrae blueprint depends on the T (brachyury) gene.

Authors:  Andreas Kromik; Reiner Ulrich; Marian Kusenda; Andrea Tipold; Veronika M Stein; Maren Hellige; Peter Dziallas; Frieder Hadlich; Philipp Widmann; Tom Goldammer; Wolfgang Baumgärtner; Jürgen Rehage; Dierck Segelke; Rosemarie Weikard; Christa Kühn
Journal:  Genetics       Date:  2015-01-22       Impact factor: 4.562

Review 6.  The genetic basis of mammalian neurulation.

Authors:  Andrew J Copp; Nicholas D E Greene; Jennifer N Murdoch
Journal:  Nat Rev Genet       Date:  2003-10       Impact factor: 53.242

7.  A missense T (Brachyury) mutation contributes to vertebral malformations.

Authors:  Nader Ghebranious; Robert D Blank; Cathleen L Raggio; Justin Staubli; Elizabeth McPherson; Lynn Ivacic; Kristen Rasmussen; F Stig Jacobsen; Thomas Faciszewski; James K Burmester; Richard M Pauli; Oheneba Boachie-Adjei; Ingrid Glurich; Philip F Giampietro
Journal:  J Bone Miner Res       Date:  2008-10       Impact factor: 6.741
  7 in total
  6 in total

1.  Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.

Authors:  Marie Beaumont; Linda Akloul; Wilfrid Carré; Chloé Quélin; Hubert Journel; Laurent Pasquier; Mélanie Fradin; Sylvie Odent; Houda Hamdi-Rozé; Erwan Watrin; Valérie Dupé; Christèle Dubourg; Véronique David
Journal:  Hum Genet       Date:  2019-03-05       Impact factor: 4.132

2.  Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects.

Authors:  Catherine J Spellicy; Joy Norris; Renee Bend; Caleb Bupp; Paul Mester; Tracy Reynolds; Jane Dean; Yunhui Peng; Emil Alexov; Charles E Schwartz; Roger S Stevenson; Michael J Friez
Journal:  Eur J Hum Genet       Date:  2018-01-22       Impact factor: 4.246

3.  2020 Curt Stern Award address: a more perfect clinical genome-how consanguineous populations contribute to the medical annotation of the human genome.

Authors:  Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2021-03-04       Impact factor: 11.025

Review 4.  Closing in on Mechanisms of Open Neural Tube Defects.

Authors:  Sangmoon Lee; Joseph G Gleeson
Journal:  Trends Neurosci       Date:  2020-05-15       Impact factor: 13.837

5.  Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene.

Authors:  F Fontanella; M C van Maarle; P Robles de Medina; R J Oostra; R R van Rijn; E Pajkrt; C M Bilardo
Journal:  Case Rep Obstet Gynecol       Date:  2016-12-26

Review 6.  Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.

Authors:  Gabriel C Dworschak; Heiko M Reutter; Michael Ludwig
Journal:  Orphanet J Rare Dis       Date:  2021-04-09       Impact factor: 4.123
  6 in total

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