Cargando…

WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability

Investigating novel genetic variants involved in intellectual disability (ID) development is essential. X-linked intellectual disability (XLID) accounts for over 10% of all cases of ID in males. XLID genes are involved in many cellular pathways and processes. Some of them are not specific to the dev...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rzońca-Niewczas, Sylwia, Wierzba, Jolanta, Kaczorowska, Ewa, Poryszewska, Milena, Kosińska, Joanna, Stawiński, Piotr, Płoski, Rafał, Bal, Jerzy
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8701106/ https://www.ncbi.nlm.nih.gov/pubmed/34946860 http://dx.doi.org/10.3390/genes12121911

Ejemplares similares

The MED13L Haploinsufficiency Syndrome Associated with De Novo Nonsense Variant (P.GLN1981*)
por: Dawidziuk, Mateusz, et al.
Publicado: (2021)

Destabilization of mutated human PUS3 protein causes intellectual disability
por: Lin, Ting‐Yu, et al.
Publicado: (2022)

Case Report: Lennox–Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant
por: Paprocka, Justyna, et al.
Publicado: (2021)

Two Novel Variants of WDR26 in Chinese Patients with Intellectual Disability
por: Hu, Jiacheng, et al.
Publicado: (2022)

A Novel Monoallelic Nonsense Mutation in the NFKB2 Gene Does Not Cause a Clinical Manifestation
por: Kotlinowski, Jerzy, et al.
Publicado: (2019)

Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability
por: Haag, Natja, et al.
Publicado: (2021)

Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene
por: Slezak, Ryszard, et al.
Publicado: (2020)

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss
por: Pollak, Agnieszka, et al.
Publicado: (2017)

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant
por: Szczałuba, Krzysztof, et al.
Publicado: (2020)

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy
por: Truszkowska, Grażyna T., et al.
Publicado: (2017)

Zespół łamliwego Chromosomu x i Choroby FMR1-zależne - Objawy Kliniczne, Epidemiologia i Podłoże Molekularne Choroby
por: Landowska, Aleksandra, et al.
Publicado: (2018)

Zespół łamliwego Chromosomu X i Choroby FMR1-zależne - Postępowanie Diagnostyczne Na Podstawie Doświadczeń własnych
por: Landowska, Aleksandra, et al.
Publicado: (2018)

Wdr13 and streptozotocin-induced diabetes
por: Mishra, Arun Prakash, et al.
Publicado: (2018)

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene
por: Slezak, Ryszard, et al.
Publicado: (2021)

New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre
por: Pronicka, Ewa, et al.
Publicado: (2016)

Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype
por: Murcia Pienkowski, Victor, et al.
Publicado: (2020)

Possible Association between Suicide Committed under Influence of Ethanol and a Variant in the AUTS2 Gene
por: Chojnicka, Izabela, et al.
Publicado: (2013)

Inverse Association between Obesity Predisposing FTO Genotype and Completed Suicide
por: Chojnicka, Izabela, et al.
Publicado: (2014)

Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome
por: Machnikowska-Sokołowska, Magdalena, et al.
Publicado: (2020)

Haemophilia A associated with Down’s syndrome
por: Kaczorowska-Hac, Barbara, et al.
Publicado: (2012)

A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations
por: Truszkowska, Grażyna T, et al.
Publicado: (2015)

Intellectual disabilities and yoga
por: Singh, Satendra
Publicado: (2013)

Anesthesia for intellectually disabled
por: Chaudhary, Kapil, et al.
Publicado: (2017)

Intellectual Disability and Parenthood
por: Kandel, Isack, et al.
Publicado: (2005)

Intellectual disability and antipsychotics
por: Iñiguez, I. Cuevas, et al.
Publicado: (2021)

Nymphomania with intellectual disability
por: Sharma, Mini, et al.
Publicado: (2022)

The Genetics of Intellectual Disability
por: Jansen, Sandra, et al.
Publicado: (2023)

Mild phenotype of glutaric aciduria type 1 in polish patients – novel data from a group of 13 cases
por: Pokora, Paulina, et al.
Publicado: (2018)

Model of Intellectual Disability and the Relationship of Attitudes Towards the Sexuality of Persons with an Intellectual Disability
por: Parchomiuk, Monika
Publicado: (2012)

Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations
por: Stembalska, Agnieszka, et al.
Publicado: (2021)

Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes
por: Franaszczyk, Maria, et al.
Publicado: (2020)

5'-UTR SNP of FGF13 causes translational defect and intellectual disability
por: Pan, Xingyu, et al.
Publicado: (2021)

MED13L-related intellectual disability due to paternal germinal mosaicism
por: Bessenyei, Beáta, et al.
Publicado: (2022)

Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients
por: Rutkowska, Lena, et al.
Publicado: (2022)

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia
por: Smigiel, Robert, et al.
Publicado: (2018)

Caregiving, intellectual disability, and dementia: Report of the Summit Workgroup on Caregiving and Intellectual and Developmental Disabilities
por: Heller, Tamar, et al.
Publicado: (2018)

Dental treatment under general anesthesia in an intellectually disabled child with intellectually disabled parents
por: Han, Jeong-Hwa, et al.
Publicado: (2016)

Intellectual Disability in Children with Attention Deficit Hyperactivity Disorder
por: Ahuja, Alka, et al.
Publicado: (2013)

Towards a Better Molecular Diagnosis of FMR1-Related Disorders—A Multiyear Experience from a Reference Lab
por: Rzońca, Sylwia Olimpia, et al.
Publicado: (2016)

Structural insights into the activation of USP46 by WDR48 and WDR20
por: Zhu, Hanwen, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_qtffb6meoo31lr7lbv7nbk4rp0