Literature DB >> 28679738

Molecular basis of the first reported clinical case of congenital combined deficiency of coagulation factors.

Da-Yun Jin1, Brian O Ingram1, Darrel W Stafford1, Jian-Ke Tie1.   

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Year:  2017        PMID： 28679738      PMCID： PMC5561904          DOI： 10.1182/blood-2017-05-782367

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  17 in total

1.  Bleeding and non-bleeding phenotypes in patients with GGCX gene mutations.

Authors:  Matthias Watzka; Christof Geisen; Monika Scheer; Regina Wieland; Verena Wiegering; Thomas Dörner; Hans-Jürgen Laws; Fatma Gümrük; Sahin Hanalioglu; Sule Unal; Davut Albayrak; Johannes Oldenburg
Journal:  Thromb Res       Date:  2014-07-12       Impact factor: 3.944

Review 2.  Vitamin K-dependent coagulation factors deficiency.

Authors:  Benjamin Brenner; Amir A Kuperman; Matthias Watzka; Johannes Oldenburg
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3.  A nascent secretory protein may traverse the ribosome/endoplasmic reticulum translocase complex as an extended chain.

Authors:  P Whitley; I M Nilsson; G von Heijne
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4.  Characterization of vitamin K-dependent carboxylase mutations that cause bleeding and nonbleeding disorders.

Authors:  Jian-Ke Tie; Jorge D A Carneiro; Da-Yun Jin; Ciro D Martinhago; Cees Vermeer; Darrel W Stafford
Journal:  Blood       Date:  2016-01-12       Impact factor: 22.113

5.  Congenital combined deficiency of coagulation factors II, VII, IX and X. Report of a case.

Authors:  C W McMillan; H R Roberts
Journal:  N Engl J Med       Date:  1966-06-09       Impact factor: 91.245

6.  Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.

Authors:  Beatriz Paumard-Hernández; Julia Berges-Soria; Eva Barroso; Carlos I Rivera-Pedroza; Virginia Pérez-Carrizosa; Sara Benito-Sanz; Eva López-Messa; Fernando Santos; Ignacio I García-Recuero; Ana Romance; Juliana María Ballesta-Martínez; Vanesa López-González; Ángel Campos-Barros; Jaime Cruz; Encarna Guillén-Navarro; Jaime Sánchez Del Pozo; Pablo Lapunzina; Sixto García-Miñaur; Karen E Heath
Journal:  Eur J Hum Genet       Date:  2014-10-01       Impact factor: 4.246

7.  Truncated gamma-glutamyl carboxylase in rambouillet sheep.

Authors:  J S Johnson; W S Laegreid; R J Basaraba; D C Baker
Journal:  Vet Pathol       Date:  2006-07       Impact factor: 2.221

8.  Mutagenesis of vitamin K-dependent carboxylase demonstrates a carboxyl terminus-mediated interaction with vitamin K hydroquinone.

Authors:  D A Roth; M L Whirl; L J Velazquez-Estades; C T Walsh; B Furie; B C Furie
Journal:  J Biol Chem       Date:  1995-03-10       Impact factor: 5.157

9.  Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.

Authors:  Simone Rost; Andreas Fregin; Vytautas Ivaskevicius; Ernst Conzelmann; Konstanze Hörtnagel; Hans-Joachim Pelz; Knut Lappegard; Erhard Seifried; Inge Scharrer; Edward G D Tuddenham; Clemens R Müller; Tim M Strom; Johannes Oldenburg
Journal:  Nature       Date:  2004-02-05       Impact factor: 49.962

10.  Congenital deficiency of blood clotting factors II, VII, IX, and X.

Authors:  K S Chung; A Bezeaud; J C Goldsmith; C W McMillan; D Ménaché; H R Roberts
Journal:  Blood       Date:  1979-04       Impact factor: 22.113
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  2 in total

1.  γ-Glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.

Authors:  Zhenyu Hao; Da-Yun Jin; Xuejie Chen; Leon J Schurgers; Darrel W Stafford; Jian-Ke Tie
Journal:  Blood       Date:  2021-01-28       Impact factor: 25.476

2.  Characterization of missense mutations in the signal peptide and propeptide of FIX in hemophilia B by a cell-based assay.

Authors:  Wenwen Gao; Yaqi Xu; Hongli Liu; Meng Gao; Qing Cao; Yiyi Wang; Longteng Cui; Rong Huang; Yan Shen; Sanqiang Li; Haiping Yang; Yixiang Chen; Chaokun Li; Haichuan Yu; Weikai Li; Guomin Shen
Journal:  Blood Adv       Date:  2020-08-11
  2 in total

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