Cargando…

Clinical non-penetrance associated with biallelic mutations in the RNase H2 complex

Detalles Bibliográficos
Autor principal:	Crow, Yanick J
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7614947/ https://www.ncbi.nlm.nih.gov/pubmed/36705819 http://dx.doi.org/10.1007/s10875-023-01438-2

Ejemplares similares

Biallelic mutations in NRROS cause an early onset lethal microgliopathy
por: Smith, Colin, et al.
Publicado: (2020)

Biallelic DDHD2 mutations in patients with adult‐onset complex hereditary spastic paraplegia
por: Chou, Ying‐Tsen, et al.
Publicado: (2023)

Dental malformations associated with biallelic MMP20 mutations
por: Wang, Shih‐Kai, et al.
Publicado: (2020)

Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum
por: Huckfeldt, Rachel M., et al.
Publicado: (2020)

Biallelic IARS2 mutations presenting as sideroblastic anemia
por: Barcia, Giulia, et al.
Publicado: (2021)

Development of an RNase H2 Activity Assay for Clinical Screening
por: Schulz, Marian Simon, et al.
Publicado: (2023)

Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response
por: Beijer, Danique, et al.
Publicado: (2021)

Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease)
por: Mahroo, Omar A., et al.
Publicado: (2019)

Biallelic PMS2 Mutations in a Family with Uncommon Clinical and Molecular Features
por: Pedroni, Monica, et al.
Publicado: (2022)

RNase H2, mutated in Aicardi‐Goutières syndrome, promotes LINE‐1 retrotransposition
por: Benitez‐Guijarro, Maria, et al.
Publicado: (2018)

Biallelic mutations in UGDH cause congenital microcephaly
por: Shu, Li, et al.
Publicado: (2023)

Role of RNase H1 in DNA repair: removal of single ribonucleotide misincorporated into DNA in collaboration with RNase H2
por: Tannous, Elias, et al.
Publicado: (2015)

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2
por: Blackburn, Patrick R., et al.
Publicado: (2020)

Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients
por: Sodi, Andrea, et al.
Publicado: (2011)

Biallelic mutations in cancer genomes reveal local mutational determinants
por: Demeulemeester, Jonas, et al.
Publicado: (2022)

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype
por: Alston, Charlotte L., et al.
Publicado: (2016)

PCR artifacts can explain the reported biallelic JAK2 mutations
por: Gao, R, et al.
Publicado: (2012)

Aicardi–Goutières Syndrome associated mutations of RNase H2B impair its interaction with ZMYM3 and the CoREST histone-modifying complex
por: Shapson-Coe, Alexander, et al.
Publicado: (2019)

Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene
por: Hufendiek, Karsten, et al.
Publicado: (2020)

SAT292 Adrenal Insufficiency Associated With Biallelic Mutations In Porphyria Genes
por: Smith, Chris, et al.
Publicado: (2023)

Biallelic CLPB mutation associated with isolated neutropenia and 3‐MGA‐uria
por: Rivalta, Beatrice, et al.
Publicado: (2022)

Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia
por: Colin, Elia, et al.
Publicado: (2021)

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
por: Krenn, Martin, et al.
Publicado: (2019)

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection
por: Eletto, Davide, et al.
Publicado: (2016)

Biallelic mutations in WDR12 are associated with male infertility with tapered-head sperm
por: Hua, Juan, et al.
Publicado: (2022)

RNase MRP RNA and RNase P activity in plants are associated with a Pop1p containing complex
por: Krehan, Mario, et al.
Publicado: (2012)

Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations
por: Abati, Elena, et al.
Publicado: (2021)

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
por: Efthymiou, Stephanie, et al.
Publicado: (2019)

Avoidance of rNMP-induced mutations via RNaseH2 and Srs2-Exo1 dependent mechanisms
por: Potenski, Catherine J., et al.
Publicado: (2014)

Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3
por: Rubio-Cabezas, Oscar, et al.
Publicado: (2011)

Biallelic mutations in RNA-binding protein ADAD2 cause spermiogenic failure and non-obstructive azoospermia in humans
por: Shi, Baolu, et al.
Publicado: (2023)

Phenotypic variation in familial chilblain lupus (FCL) and Aicardi-Goutières syndrome (AGS) associated with TREX1 mutation in 4 family members
por: Glanville, James, et al.
Publicado: (2011)

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability
por: Sheikh, Taimoor I., et al.
Publicado: (2021)

High Flexibility of RNaseH2 Catalytic Activity with Respect to Non-Canonical DNA Structures
por: Dede, Maria, et al.
Publicado: (2021)

Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations
por: Kuo, Che-Yuan, et al.
Publicado: (2023)

Biallelic mutations in ABCB1 display recurrent reversible encephalopathy
por: Seo, Jieun, et al.
Publicado: (2020)

Biallelic TET2 mutations confer sensitivity to 5′-azacitidine in acute myeloid leukemia
por: Stölzel, Friedrich, et al.
Publicado: (2023)

Biallelic Mutations In Human DCC Cause Developmental Split Brain Syndrome
por: Jamuar, Saumya S., et al.
Publicado: (2017)

Role of RNH1 in the regulation of RNase H2 function
por: Kind, B, et al.
Publicado: (2015)

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations
por: Vetro, Annalisa, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_t0n7gtbkoi0lkoo9lpu83jhp9l