Janus kinase inhibition in the Aicardi–Goutières syndrome
A Vanderver, L Adang, F Gavazzi… - … England Journal of …, 2020 - Mass Medical Soc
JAK Inhibition in the Aicardi–Goutières Syndrome Patients with the Aicardi–Goutières
syndrome, an autosomal recessive disorder that affects the central nervous system, immune …
syndrome, an autosomal recessive disorder that affects the central nervous system, immune …
Genetic, phenotypic, and interferon biomarker status in ADAR1-related neurological disease
GI Rice, N Kitabayashi, M Barth, TA Briggs… - …, 2017 - thieme-connect.com
We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families
with neurological disease due to mutations in ADAR1. The clinicoradiological phenotype …
with neurological disease due to mutations in ADAR1. The clinicoradiological phenotype …
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically
characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism …
characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism …
Developmental outcomes of Aicardi Goutières syndrome
L Adang, F Gavazzi, M De Simone… - Journal of child …, 2020 - journals.sagepub.com
Aicardi Goutières syndrome is a monogenic interferonopathy caused by abnormalities in the
intracellular nucleic acid sensing machinery (TREX1, RNASEH2A, RNASEH2B …
intracellular nucleic acid sensing machinery (TREX1, RNASEH2A, RNASEH2B …
[HTML][HTML] X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1
N Miyake, NI Wolf, FK Cayami, J Crawford, A Bley… - Neurogenetics, 2017 - Springer
An X-linked condition characterized by the combination of hypomyelinating leukodystrophy
and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with …
and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with …
Neonatal detection of Aicardi Goutières syndrome by increased C26: 0 lysophosphatidylcholine and interferon signature on newborn screening blood spots
T Armangue, JJ Orsini, A Takanohashi… - Molecular genetics and …, 2017 - Elsevier
Abstract Background Aicardi Goutières Syndrome (AGS) is a heritable interferonopathy
associated with systemic autoinflammation causing interferon (IFN) elevation, central …
associated with systemic autoinflammation causing interferon (IFN) elevation, central …
Aicardi goutières syndrome is associated with pulmonary hypertension
While pulmonary hypertension (PH) is a potentially life threatening complication of many
inflammatory conditions, an association between Aicardi Goutières syndrome (AGS), a rare …
inflammatory conditions, an association between Aicardi Goutières syndrome (AGS), a rare …
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
Background Mutations in the RMND1 (Required for Meiotic Nuclear Division protein 1) gene
have recently been linked to infantile onset mitochondrial disease characterised by multiple …
have recently been linked to infantile onset mitochondrial disease characterised by multiple …
RMND1-related leukoencephalopathy with temporal lobe cysts and hearing loss—another mendelian mimicker of congenital cytomegalovirus infection
Background Leukoencephalopathy with temporal lobe cysts may be associated with
monogenetic conditions such as Aicardi–Goutières syndrome or RNASET2 mutations and …
monogenetic conditions such as Aicardi–Goutières syndrome or RNASET2 mutations and …
Hepatic involvement in Aicardi-Goutieres syndrome
F Gavazzi, ZM Cross, S Woidill, JM McMann… - …, 2021 - thieme-connect.com
Aicardi-Goutières syndrome (AGS) is a monogenic type-I interferonopathy that results in
neurologic injury. The systemic impact of sustained interferon activation is less well …
neurologic injury. The systemic impact of sustained interferon activation is less well …