New insights into oocyte cytoplasmic lattice-associated proteins
C Giaccari, F Cecere, L Argenziano, A Pagano… - Trends in Genetics, 2024 - cell.com
Oocyte maturation and preimplantation embryo development are critical to successful
pregnancy outcomes and the correct establishment and maintenance of genomic imprinting …
pregnancy outcomes and the correct establishment and maintenance of genomic imprinting …
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
Background Imprinting disorders are rare diseases resulting from altered expression of
imprinted genes, which exhibit parent-of-origin-specific expression patterns regulated …
imprinted genes, which exhibit parent-of-origin-specific expression patterns regulated …
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach
Abstract Background Imprinting disorders (ImpDis) comprise diseases which are caused by
aberrant regulation of monoallelically and parent-of-origin-dependent expressed genes. A …
aberrant regulation of monoallelically and parent-of-origin-dependent expressed genes. A …
Co-Occurrence of Beckwith–Wiedemann Syndrome and Early-Onset Colorectal Cancer
F Cecere, L Pignata, B Hay Mele, A Saadat… - Cancers, 2023 - mdpi.com
Simple Summary Beckwith–Wiedemann Spectrum (BWSp) is a disorder predisposing to
tumors of embryonic origin arising during childhood. Little is known concerning tumor risk …
tumors of embryonic origin arising during childhood. Little is known concerning tumor risk …
Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?
L Pignata, F Cecere, F Acquaviva… - Frontiers in Cell and …, 2023 - frontiersin.org
Imprinting disorders are congenital diseases caused by dysregulation of genomic imprinting,
affecting growth, neurocognitive development, metabolism and cancer predisposition …
affecting growth, neurocognitive development, metabolism and cancer predisposition …
A case of mosaic deletion of paternally‐inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under‐expression as a cause of growth …
ASN Alhendi, G Gazdagh, D Lim… - American Journal of …, 2024 - Wiley Online Library
PLAGL1 is one of a group of imprinted genes, whose altered expression causes imprinting
disorders impacting growth, development, metabolism, and behavior. PLAGL1 over …
disorders impacting growth, development, metabolism, and behavior. PLAGL1 over …
MicroRNA dysregulation in ataxia telangiectasia
E Cirillo, A Tarallo, E Toriello, A Carissimo… - Frontiers in …, 2024 - frontiersin.org
Introduction Ataxia telangiectasia (AT) is a rare disorder characterized by
neurodegeneration, combined immunodeficiency, a predisposition to malignancies, and …
neurodegeneration, combined immunodeficiency, a predisposition to malignancies, and …
Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome …
F Passaretti, L Pignata, G Vitiello, V Alesi, G D'Elia… - Genes, 2022 - mdpi.com
Silver–Russell syndrome is an imprinting disorder characterised by pre-and post-natal
growth retardation and several heterogeneous molecular defects affecting different human …
growth retardation and several heterogeneous molecular defects affecting different human …
Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance
T Urakawa, H Soejima, K Yamoto, K Hara-Isono… - Clinical …, 2024 - Springer
Background Multi-locus imprinting disturbance (MLID) with methylation defects in various
differentially methylated regions (DMRs) has recently been identified in approximately 150 …
differentially methylated regions (DMRs) has recently been identified in approximately 150 …
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum
K Higashimoto, F Sun, E Imagawa, K Saida… - Journal of Medical …, 2024 - jmg.bmj.com
Background Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder caused by
(epi) genetic alterations at 11p15. Because approximately 20% of patients test negative via …
(epi) genetic alterations at 11p15. Because approximately 20% of patients test negative via …