Literature DB >> 20696291

FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?

Ranad Shaheen, Mohammed Al-Owain, Nadia Sakati, Zayed S Alzayed, Fowzan S Alkuraya.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2010        PMID： 20696291      PMCID： PMC2917708          DOI： 10.1016/j.ajhg.2010.05.020

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


× No keyword cloud information.
  9 in total

1.  Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.

Authors:  Rebecca Pollitt; Robert McMahon; Janice Nunn; Robert Bamford; Amal Afifi; Nicholas Bishop; Ann Dalton
Journal:  Hum Mutat       Date:  2006-07       Impact factor: 4.878

2.  Cyclic pamidronate treatment in Bruck syndrome: proposal of a new modality of treatment.

Authors:  Nesibe Andiran; Ayfer Alikasifoglu; Yasemin Alanay; Nursen Yordam
Journal:  Pediatr Int       Date:  2008-12       Impact factor: 1.524

3.  Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17.

Authors:  R A Bank; S P Robins; C Wijmenga; L J Breslau-Siderius; A F Bardoel; H A van der Sluijs; H E Pruijs; J M TeKoppele
Journal:  Proc Natl Acad Sci U S A       Date:  1999-02-02       Impact factor: 11.205

4.  Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

Authors:  Yasemin Alanay; Hrispima Avaygan; Natalia Camacho; G Eda Utine; Koray Boduroglu; Dilek Aktas; Mehmet Alikasifoglu; Ergul Tuncbilek; Diclehan Orhan; Filiz Tiker Bakar; Bernard Zabel; Andrea Superti-Furga; Leena Bruckner-Tuderman; Cindy J R Curry; Shawna Pyott; Peter H Byers; David R Eyre; Dustin Baldridge; Brendan Lee; Amy E Merrill; Elaine C Davis; Daniel H Cohn; Nurten Akarsu; Deborah Krakow
Journal:  Am J Hum Genet       Date:  2010-04-01       Impact factor: 11.025

5.  Developmental regulation of FKBP65. An ER-localized extracellular matrix binding-protein.

Authors:  C E Patterson; T Schaub; E J Coleman; E C Davis
Journal:  Mol Biol Cell       Date:  2000-11       Impact factor: 4.138

Review 6.  Homozygosity mapping: one more tool in the clinical geneticist's toolbox.

Authors:  Fowzan S Alkuraya
Journal:  Genet Med       Date:  2010-04       Impact factor: 8.822

7.  Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis.

Authors:  Annemarie J van der Slot; Anne-Marie Zuurmond; Alfons F J Bardoel; Cisca Wijmenga; Hans E H Pruijs; David O Sillence; Jürgen Brinckmann; David J Abraham; Carol M Black; Nicole Verzijl; Jeroen DeGroot; Roeland Hanemaaijer; Johan M TeKoppele; Tom W J Huizinga; Ruud A Bank
Journal:  J Biol Chem       Date:  2003-07-24       Impact factor: 5.157

8.  FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

Authors:  Anas M Alazami; Ranad Shaheen; Fatema Alzahrani; Katie Snape; Anand Saggar; Bernd Brinkmann; Prashant Bavi; Lihadh I Al-Gazali; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2009-09       Impact factor: 11.025

9.  Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome).

Authors:  D Viljoen; G Versfeld; P Beighton
Journal:  Clin Genet       Date:  1989-08       Impact factor: 4.438
  9 in total
  21 in total

Review 1.  Chaperoning osteogenesis: new protein-folding disease paradigms.

Authors:  Elena Makareeva; Nydea A Aviles; Sergey Leikin
Journal:  Trends Cell Biol       Date:  2010-12-21       Impact factor: 20.808

Review 2.  New perspectives on osteogenesis imperfecta.

Authors:  Antonella Forlino; Wayne A Cabral; Aileen M Barnes; Joan C Marini
Journal:  Nat Rev Endocrinol       Date:  2011-06-14       Impact factor: 43.330

3.  Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.

Authors:  Ellen Knierim; Hiromi Hirata; Nicole I Wolf; Susanne Morales-Gonzalez; Gudrun Schottmann; Yu Tanaka; Sabine Rudnik-Schöneborn; Mickael Orgeur; Klaus Zerres; Stefanie Vogt; Anne van Riesen; Esther Gill; Franziska Seifert; Angelika Zwirner; Janbernd Kirschner; Hans Hilmar Goebel; Christoph Hübner; Sigmar Stricker; David Meierhofer; Werner Stenzel; Markus Schuelke
Journal:  Am J Hum Genet       Date:  2016-02-25       Impact factor: 11.025

4.  Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.

Authors:  Matthias Baumann; Cecilia Giunta; Birgit Krabichler; Franz Rüschendorf; Nicoletta Zoppi; Marina Colombi; Reginald E Bittner; Susana Quijano-Roy; Francesco Muntoni; Sebahattin Cirak; Gudrun Schreiber; Yaqun Zou; Ying Hu; Norma Beatriz Romero; Robert Yves Carlier; Albert Amberger; Andrea Deutschmann; Volker Straub; Marianne Rohrbach; Beat Steinmann; Kevin Rostásy; Daniela Karall; Carsten G Bönnemann; Johannes Zschocke; Christine Fauth
Journal:  Am J Hum Genet       Date:  2012-01-19       Impact factor: 11.025

5.  A substrate preference for the rough endoplasmic reticulum resident protein FKBP22 during collagen biosynthesis.

Authors:  Yoshihiro Ishikawa; Hans Peter Bächinger
Journal:  J Biol Chem       Date:  2014-05-12       Impact factor: 5.157

6.  Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.

Authors:  Steven Mumm; Gary S Gottesman; Deborah Wenkert; Philippe M Campeau; Angela Nenninger; Margaret Huskey; Vinieth N Bijanki; Deborah J Veis; Aileen M Barnes; Joan C Marini; Marina Stolina; Fan Zhang; William H McAlister; Michael P Whyte
Journal:  Bone       Date:  2019-08-28       Impact factor: 4.398

7.  Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.

Authors:  Aileen M Barnes; Wayne A Cabral; MaryAnn Weis; Elena Makareeva; Edward L Mertz; Sergey Leikin; David Eyre; Carlos Trujillo; Joan C Marini
Journal:  Hum Mutat       Date:  2012-07-16       Impact factor: 4.878

8.  Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations.

Authors:  Aileen M Barnes; Geraldine Duncan; Maryann Weis; William Paton; Wayne A Cabral; Edward L Mertz; Elena Makareeva; Michael J Gambello; Felicitas L Lacbawan; Sergey Leikin; Andrzej Fertala; David R Eyre; Sherri J Bale; Joan C Marini
Journal:  Hum Mutat       Date:  2013-07-08       Impact factor: 4.878

9.  Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.

Authors:  Muhammad Umair; Annum Hassan; Abid Jan; Farooq Ahmad; Muhammad Imran; Muhammad I Samman; Sulman Basit; Wasim Ahmad
Journal:  J Hum Genet       Date:  2015-11-05       Impact factor: 3.172

10.  Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.

Authors:  Ulrike Schwarze; Tim Cundy; Shawna M Pyott; Helena E Christiansen; Madhuri R Hegde; Ruud A Bank; Gerard Pals; Arunkanth Ankala; Karen Conneely; Laurie Seaver; Suzanne M Yandow; Ellen Raney; Dusica Babovic-Vuksanovic; Joan Stoler; Ziva Ben-Neriah; Reeval Segel; Sari Lieberman; Liesbeth Siderius; Aida Al-Aqeel; Mark Hannibal; Louanne Hudgins; Elizabeth McPherson; Michele Clemens; Michael D Sussman; Robert D Steiner; John Mahan; Rosemarie Smith; Kwame Anyane-Yeboa; Julia Wynn; Karen Chong; Tami Uster; Salim Aftimos; V Reid Sutton; Elaine C Davis; Lammy S Kim; Mary Ann Weis; David Eyre; Peter H Byers
Journal:  Hum Mol Genet       Date:  2012-09-04       Impact factor: 6.150
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.