Genetics of human telomere biology disorders

P Revy, C Kannengiesser, AA Bertuch - Nature Reviews Genetics, 2023 - nature.com
Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that
prevent the activation of DNA damage response and repair pathways. Numerous factors …

Hematologically important mutations: X-linked chronic granulomatous disease (third update)

…, J He, HR Hill, SM Holland, C Kannengiesser… - Blood Cells, Molecules …, 2010 - Elsevier
Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in
250,000 individuals. The disease is caused by a lack of superoxide production by the …

[HTML][HTML] Iron refractory iron deficiency anemia

…, M Sanchez, L Silvestri, C Kannengiesser… - …, 2013 - ncbi.nlm.nih.gov
… ) region, two CUB (Complement factor C1s/C1r, Urchin embryonic growth factor, Bone
morphogenic protein) domains, three Low Density Lipoprotein Receptor (LDLR) domains and a C

[HTML][HTML] MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease

…, S Gazal, C Kannengiesser… - … England Journal of …, 2018 - Mass Medical Soc
Background Given the phenotypic similarities between rheumatoid arthritis (RA)–associated
interstitial lung disease (ILD) (hereafter, RA-ILD) and idiopathic pulmonary fibrosis, we …

Handbook of Patristic Exegesis: Part I: The Bible in Ancient Christianity

C Kannengiesser - Handbook of Patristic Exegesis, 2023 - brill.com
C. Dagens, “Une certaine manière de faire de la théologie: De l’actualité des Pères de l’…
(c) Though focusing on patristic exegesis, the Handbook does not report on all aspects of …

Methotrexate and rheumatoid arthritis associated interstitial lung disease

…, R Borie, S Ottaviani, C Kannengiesser… - European …, 2021 - Eur Respiratory Soc
Question addressed by the study Methotrexate (MTX) is a key anchor drug for rheumatoid
arthritis (RA) management. Fibrotic interstitial lung disease (ILD) is a common complication of …

PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor

A Chompret, C Kannengiesser, M Barrois, P Terrier… - Gastroenterology, 2004 - Elsevier
… : a denaturation step at 94C for 15 minutes, followed by 40 cycles (94C for 30 seconds, 65C
for 15 seconds, 72C for 1 minute), and a final extension step at 72C for 10 minutes. Primers …

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis

PA Juge, R Borie, C Kannengiesser… - European …, 2017 - Eur Respiratory Soc
… Ile73Thr) induce aberrant intracellular trafficking of proSP-C, which eludes cleavage and …
Although we could not examine the functional consequences of the SP-C p.Met60Ile mutation, …

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

…, RJ Klaassen, C Kannengiesser… - Blood, The Journal …, 2014 - ashpublications.org
… value and the ratio of OD600 at 37C/22C was calculated and normalized so that the relative
… value and the ratio of OD600 at 37C/22C was calculated and normalized so that the relative …

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis

C Kannengiesser, R Borie, C Ménard… - European …, 2015 - Eur Respiratory Soc
… codon (c.3493dupC, p.(… (c.2964T>G, p.(Phe988Leu)) and corresponding to a different
nucleotide change (nomenclature in the 1219- and 1300-aa isoforms: 2890T>C in our patient and c