The RASopathies: from pathogenetics to therapeutics

KE Hebron, ER Hernandez… - Disease models & …, 2022 - journals.biologists.com
The RASopathies are a group of disorders caused by a germline mutation in one of the
genes encoding a component of the RAS/MAPK pathway. These disorders, including …

Primary lymphoedema

P Brouillard, MH Witte, RP Erickson… - Nature reviews Disease …, 2021 - nature.com
Lymphoedema is the swelling of one or several parts of the body owing to lymph
accumulation in the extracellular space. It is often chronic, worsens if untreated, predisposes …

[HTML][HTML] Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

SR Plotkin, L Messiaen, E Legius, P Pancza… - Genetics in …, 2022 - Elsevier
Abstract Purpose Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are
genetically distinct tumor predisposition syndromes with overlapping phenotypes. We …

[PDF][PDF] Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource

NT Strande, ER Riggs, AH Buchanan… - The American Journal of …, 2017 - cell.com
With advances in genomic sequencing technology, the number of reported gene-disease
relationships has rapidly expanded. However, the evidence supporting these claims varies …

[HTML][HTML] Recent advances in RASopathies

Y Aoki, T Niihori, S Inoue, Y Matsubara - Journal of human genetics, 2016 - nature.com
RASopathies or RAS/mitogen-activated protein kinase (MAPK) syndromes are a group of
phenotypically overlapping syndromes caused by germline mutations that encode …

The RASopathy family: consequences of germline activation of the RAS/MAPK pathway

M Tajan, R Paccoud, S Branka, T Edouard… - Endocrine …, 2018 - academic.oup.com
Abstract Noonan syndrome [NS; Mendelian Inheritance in Men (MIM)# 163950] and related
syndromes [Noonan syndrome with multiple lentigines (formerly called LEOPARD …

Insights into genetics, human biology and disease gleaned from family based genomic studies

JE Posey, AH O'Donnell-Luria, JX Chong, T Harel… - Genetics in …, 2019 - nature.com
Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …

LZTR1 is a regulator of RAS ubiquitination and signaling

JW Bigenzahn, GM Collu, F Kartnig, M Pieraks… - Science, 2018 - science.org
In genetic screens aimed at understanding drug resistance mechanisms in chronic myeloid
leukemia cells, inactivation of the cullin 3 adapter protein-encoding leucine zipper-like …

SHP2 sails from physiology to pathology

M Tajan, A de Rocca Serra, P Valet, T Edouard… - European journal of …, 2015 - Elsevier
Over the two past decades, mutations of the PTPN11 gene, encoding the ubiquitous protein
tyrosine phosphatase SHP2 (SH2 domain-containing tyrosine phosphatase 2), have been …

Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination

M Steklov, S Pandolfi, MF Baietti, A Batiuk, P Carai… - Science, 2018 - science.org
The leucine zipper–like transcriptional regulator 1 (LZTR1) protein, an adaptor for cullin 3
(CUL3) ubiquitin ligase complex, is implicated in human disease, yet its mechanism of …