Literature DB >> 35754062

Inherited metabolic disorders beyond the new generation sequencing era: the need for in-depth cellular and molecular phenotyping.

Jean-Louis Guéant1,2, François Feillet3,4.   

Abstract

Entities:  

Mesh：

Year:  2022        PMID： 35754062     DOI： 10.1007/s00439-022-02467-4

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   5.881


× No keyword cloud information.
  18 in total

1.  Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.

Authors:  Eline Blommaert; Romain Péanne; Natalia A Cherepanova; Daisy Rymen; Frederik Staels; Jaak Jaeken; Valérie Race; Liesbeth Keldermans; Erika Souche; Anniek Corveleyn; Rebecca Sparkes; Kaustuv Bhattacharya; Christine Devalck; Rik Schrijvers; François Foulquier; Reid Gilmore; Gert Matthijs
Journal:  Proc Natl Acad Sci U S A       Date:  2019-04-29       Impact factor: 11.205

Review 2.  Gene of the month: IDH1.

Authors:  Cassandra Bruce-Brand; Dhirendra Govender
Journal:  J Clin Pathol       Date:  2020-07-29       Impact factor: 3.411

3.  FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.

Authors:  Chandree L Beaulieu; Jacek Majewski; Jeremy Schwartzentruber; Mark E Samuels; Bridget A Fernandez; Francois P Bernier; Michael Brudno; Bartha Knoppers; Janet Marcadier; David Dyment; Shelin Adam; Dennis E Bulman; Steve J M Jones; Denise Avard; Minh Thu Nguyen; Francois Rousseau; Christian Marshall; Richard F Wintle; Yaoqing Shen; Stephen W Scherer; Jan M Friedman; Jacques L Michaud; Kym M Boycott
Journal:  Am J Hum Genet       Date:  2014-06-05       Impact factor: 11.025

4.  Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation.

Authors:  Eline Blommaert; Natalia A Cherepanova; Frederik Staels; Matthew P Wilson; Reid Gilmore; Rik Schrijvers; Jaak Jaeken; François Foulquier; Gert Matthijs
Journal:  Hum Genet       Date:  2022-02-19       Impact factor: 5.881

5.  SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation.

Authors:  Valérie Cormier-Daire; François Foulquier; Zoé Durin; Johanne Dubail; Aurore Layotte; Dominique Legrand
Journal:  Hum Genet       Date:  2022-01-08       Impact factor: 5.881

6.  Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D.

Authors:  Benjamin Chaigne-Delalande; Feng-Yen Li; Geraldine M O'Connor; Marshall J Lukacs; Ping Jiang; Lixin Zheng; Amber Shatzer; Matthew Biancalana; Stefania Pittaluga; Helen F Matthews; Timothy J Jancel; Jack J Bleesing; Rebecca A Marsh; Taco W Kuijpers; Kim E Nichols; Carrie L Lucas; Sunil Nagpal; Huseyin Mehmet; Helen C Su; Jeffrey I Cohen; Gulbu Uzel; Michael J Lenardo
Journal:  Science       Date:  2013-07-12       Impact factor: 47.728

7.  An international classification of inherited metabolic disorders (ICIMD).

Authors:  Carlos R Ferreira; Shamima Rahman; Markus Keller; Johannes Zschocke
Journal:  J Inherit Metab Dis       Date:  2021-01       Impact factor: 4.750

8.  APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.

Authors:  Jean-Louis Guéant; Céline Chéry; Abderrahim Oussalah; Javad Nadaf; David Coelho; Thomas Josse; Justine Flayac; Aurélie Robert; Isabelle Koscinski; Isabelle Gastin; Pierre Filhine-Tresarrieu; Mihaela Pupavac; Alison Brebner; David Watkins; Tomi Pastinen; Alexandre Montpetit; Fadi Hariri; David Tregouët; Benjamin A Raby; Wendy K Chung; Pierre-Emmanuel Morange; D Sean Froese; Matthias R Baumgartner; Jean-François Benoist; Can Ficicioglu; Virginie Marchand; Yuri Motorin; Chrystèle Bonnemains; François Feillet; Jacek Majewski; David S Rosenblatt
Journal:  Nat Commun       Date:  2018-01-04       Impact factor: 14.919

Review 9.  NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.

Authors:  Ana Fernandez-Marmiesse; Sofia Gouveia; Maria L Couce
Journal:  Curr Med Chem       Date:  2018-01-30       Impact factor: 4.530

10.  Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria.

Authors:  Patrick Forny; Tanja Plessl; Caroline Frei; Celine Bürer; D Sean Froese; Matthias R Baumgartner
Journal:  Hum Genet       Date:  2021-11-18       Impact factor: 5.881
View more
  1 in total

1.  Inherited metabolic disorders beyond the new generation sequencing era: the need for in-depth cellular and molecular phenotyping.

Authors:  Jean-Louis Guéant; François Feillet
Journal:  Hum Genet       Date:  2022-07       Impact factor: 5.881
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.