CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation

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CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation is …
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scholarly articleQ13442814

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P6179Dimensions Publication ID1016870851
P356DOI10.1007/S00439-010-0848-X
P932PMC publication ID2921488
P698PubMed publication ID20563892
P5875ResearchGate publication ID44688470

P50authorAdrianus Henricus Maria Geurts van KesselQ28321462
Hans van BokhovenQ28324459
Annette SchenckQ41045353
Jamie M KramerQ54255520
Dorien LugtenbergQ114367420
Ad Geurts van KesselQ125134904
P2093author name stringMerel A W Oortveld
Frans P M Cremers
Arijit Mukhopadhyay
Jyoti Agrawal
Erik Huys
Eric F Schoenmakers
Ellen A W Blokland
C Erik van Nouhuys
Gerard Merkx
Dominique F Smeets
P2860cites workThe Ciliopathies: An Emerging Class of Human Genetic DisordersQ22337032
The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylasesQ24298299
The human CDK8 subcomplex is a histone kinase that requires Med12 for activity and can function independently of mediatorQ24320150
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardationQ24530632
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationQ24534159
Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genesQ24534395
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndromeQ24669780
Rett syndrome: clinical review and genetic updateQ24674633
Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT MethodQ25938999
The neighbor-joining method: a new method for reconstructing phylogenetic treesQ25939010
A new mathematical model for relative quantification in real-time RT-PCRQ27860781
Targeted gene expression as a means of altering cell fates and generating dominant phenotypesQ27861039
Dendritic anomalies in disorders associated with mental retardationQ28139722
Mapping and characterization of the mouse and human SS18 genes, two human SS18-like genes and a mouse Ss18 pseudogeneQ28204577
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouseQ28593460
Histone methyltransferases G9a and GLP form heteromeric complexes and are both crucial for methylation of euchromatin at H3-K9Q28594945
The ciliary proteome database: an integrated community resource for the genetic and functional dissection of ciliaQ29615741
Systematic identification of genes that regulate neuronal wiring in the Drosophila visual systemQ33339394
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndromeQ34576763
The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.Q34624060
The cyclin-dependent kinase 8 module sterically blocks Mediator interactions with RNA polymerase II.Q35127464
Distinct roles for Mediator Cdk8 module subunits in Drosophila development.Q35752882
Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardationQ36975019
The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branchesQ37090067
Drosophila Cdk8, a kinase partner of cyclin C that interacts with the large subunit of RNA polymerase II.Q37380380
Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblastsQ40268522
Congenital microcephaly, juvenile retinal dystrophy and normal mentation in a mildly dysmorphic childQ41920292
Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndromeQ41935550
The human CDK8 subcomplex is a molecular switch that controls Mediator coactivator functionQ42082510
An efficient method for routine Epstein-Barr virus immortalization of human B lymphocytesQ45785987
Tiling of the Drosophila epidermis by multidendritic sensory neurons.Q45960946
Control of dendritic development by theDrosophila fragile X-relatedgene involves the small GTPase Rac1Q46237451
Different levels of the homeodomain protein cut regulate distinct dendrite branching patterns of Drosophila multidendritic neuronsQ46682237
Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families.Q50567749
Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina.Q52286416
Congenital retinal fold as a sign of dominant exudative vitreoretinopathy.Q52295842
Autosomal recessive vitreoretinopathy and encephalocelesQ70622993
Falciform retinal fold as sign of familial exudative vitreoretinopathyQ71744825
Two cases of ablatio falciformis congenita and other 2 cases of ocular congenital anomalies, which appeared in a pedigree with consangineous marriagesQ79006056
P433issue3
P921main subjectcongenital disorderQ727096
patientQ181600
microcephalyQ431643
P304page(s)281-291
P577publication date2010-06-22
P1433published inHuman GeneticsQ5937167
P1476titleCDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation
P478volume128