DNA repair syndromes and cancer: insights into genetics and phenotype patterns
R Sharma, S Lewis, MW Wlodarski - Frontiers in Pediatrics, 2020 - frontiersin.org
DNA damage response is essential to human physiology. A broad spectrum of pathologies
are displayed by individuals carrying monoallelic or biallelic loss-of-function mutations in …
are displayed by individuals carrying monoallelic or biallelic loss-of-function mutations in …
Monogenic adult-onset inborn errors of immunity
F Staels, T Collignon, A Betrains, M Gerbaux… - Frontiers in …, 2021 - frontiersin.org
Inborn errors of immunity (IEI) are a heterogenous group of disorders driven by genetic
defects that functionally impact the development and/or function of the innate and/or …
defects that functionally impact the development and/or function of the innate and/or …
Clinical, immunological, and molecular features of typical and atypical severe combined immunodeficiency: report of the italian primary immunodeficiency network
E Cirillo, C Cancrini, C Azzari, S Martino… - Frontiers in …, 2019 - frontiersin.org
Severe combined immunodeficiencies (SCIDs) are a group of inborn errors of the immune
system, usually associated with severe or life-threatening infections. Due to the variability of …
system, usually associated with severe or life-threatening infections. Due to the variability of …
[HTML][HTML] Monosomy 7 predisposition syndromes overview
TS Olson, KE Dickerson, TA Nakano… - GeneReviews® …, 2021 - ncbi.nlm.nih.gov
The purpose of this overview is to increase the awareness of clinicians regarding germline
pathogenic variants that predispose to the development of monosomy 7 and discuss …
pathogenic variants that predispose to the development of monosomy 7 and discuss …
[HTML][HTML] Severe combined immunodeficiency (SCID) and its new treatment modalities
AM Wadbudhe, RJ Meshram, SC Tidke - Cureus, 2023 - ncbi.nlm.nih.gov
Severe combined immunodeficiency (SCID) is a rare condition with very high mortality. SCID
is mainly caused by the multiple mutations of genes affecting the entire immune cells …
is mainly caused by the multiple mutations of genes affecting the entire immune cells …
Update on DNA-double strand break repair defects in combined primary immunodeficiency
MA Slatter, AR Gennery - Current Allergy and Asthma Reports, 2020 - Springer
Abstract Purpose of Review The most serious DNA damage, DNA double strand breaks
(DNA-dsb), leads to mutagenesis, carcinogenesis or apoptosis if left unrepaired. Non …
(DNA-dsb), leads to mutagenesis, carcinogenesis or apoptosis if left unrepaired. Non …
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct
R Nicolle, L Boutaud, L Loeuillet, N Talhi… - European Journal of …, 2024 - nature.com
Severe ventriculomegaly is a rare congenital brain defect, usually detected in utero, of poor
neurodevelopmental prognosis. This ventricular enlargement can be the consequence of …
neurodevelopmental prognosis. This ventricular enlargement can be the consequence of …
Characterization of a cohort of patients with LIG4 deficiency reveals the founder effect of p. R278L, unique to the Chinese population
X Luo, Q Liu, J Jiang, W Tang, Y Ding, L Zhou… - Frontiers in …, 2021 - frontiersin.org
DNA ligase IV (LIG4) deficiency is an extremely rare autosomal recessive primary
immunodeficiency disease caused by mutations in LIG4. Patients suffer from a broad …
immunodeficiency disease caused by mutations in LIG4. Patients suffer from a broad …
LIG4 syndrome: clinical and molecular characterization in a Chinese cohort
B Sun, Q Chen, Y Wang, D Liu, J Hou, W Wang… - Orphanet Journal of …, 2020 - Springer
Abstract Background DNA Ligase IV (LIG4) syndrome is a rare disease with few reports to
date. Patients suffer from a broad spectrum of clinical features, including microcephaly …
date. Patients suffer from a broad spectrum of clinical features, including microcephaly …
CometChip enables parallel analysis of multiple DNA repair activities
J Ge, LP Ngo, S Kaushal, IJ Tay, E Thadhani, JE Kay… - DNA repair, 2021 - Elsevier
DNA damage can be cytotoxic and mutagenic, and it is directly linked to aging, cancer, and
other diseases. To counteract the deleterious effects of DNA damage, cells have evolved …
other diseases. To counteract the deleterious effects of DNA damage, cells have evolved …