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Methyl-CpG binding domain protein 5

MRD1, MBD5, Mrd1p
This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause mental retardation autosomal dominant type 1. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Mar 2010] (from NCBI)
Top mentioned proteins: HAD, AGE, CAN, MDR1, CD45
Papers using MRD1 antibodies
Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method.
Fugmann Sebastian D., In PLoS ONE, 2000
... A cDNA clone containing the Isoform 1 of human MBD5 was obtained from Origene (Clone reference: SC113547) ...
Papers on MRD1
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.
Eichler et al., Seattle, United States. In Am J Hum Genet, Feb 2016
In addition, we provide evidence of gene-disruptive CNVs (in DISC1, WNT7A, RBFOX1, and MBD5), as well as smaller de novo CNVs and exon-specific SNVs missed by exome sequencing in neurodevelopmental genes (e.g., CANX, SAE1, and PIK3CA).
Simultaneous Double Eyelid Blepharoplasty and Ptosis Correction with a Single-Knot, Continuous, Nonincisional Technique: A Five-Year Review.
Shim et al., Seoul, South Korea. In Aesthet Surg J, Jan 2016
RESULTS: There was a statistically significant difference between pretreatment MRD1 (1.62 ± 0.57 mm), and postoperative MRD1 (3.97 ± 0.81 mm; P < .001,
Analysis of Lid Contour in Thyroid Eye Disease With Upper and Lower Eyelid Retraction Using Multiple Radial Midpupil Lid Distances.
Baek et al., Seoul, South Korea. In J Craniofac Surg, Jan 2016
When comparing symmetry by dividing into each angle, the ratio of 90°/270° (MRD1/MRD2) demonstrated greater in patients with TED (P = 0.000).
Nylon Hang Back Sutures in the Repair of Secondary Ptosis Following Overcorrected Dysthyroid Upper Eyelid Retraction.
Rose et al., United Kingdom. In Ophthal Plast Reconstr Surg, Jan 2016
The margin reflex distance 1 (MRD1), skin crease height, eyelid contour, symmetry of eyelid position (difference in margin reflex distance 1 <1 mm in both eyes) and degree of lagophthalmos were assessed from clinical notes preoperative and postoperatively at 1, 3, and 12 months.
Eyebrow Position Following Upper Blepharoplasty.
Perry et al., Cleveland, United States. In Orbit, Dec 2015
PURPOSE: To evaluate the effect of upper blepharoplasty on eyebrow height, accounting for ocular dominance, fat excision, change in MRD1, and degree of dermatochalasis.
Surgical correction of myogenic ptosis using a modified levator resection technique.
Sun et al., Tianjin, China. In Can J Ophthalmol, Dec 2015
Outcome measures included pre- and post-marginal reflex distance (MRD1), symmetry of height, contour, and complications.
Tomato MBD5, a methyl CpG binding domain protein, physically interacting with UV-damaged DNA binding protein-1, functions in multiple processes.
Liu et al., Chengdu, China. In New Phytol, Dec 2015
UNASSIGNED: In tomato (Solanum lycopersicum), high pigment mutations (hp-1 and hp-2) were mapped to genes encoding UV-damaged DNA binding protein 1 (DDB1) and de-etiolated-1 (DET1), respectively.
Modified Full Thickness Graded Blepharotomy for Upper Eyelid Retraction Associated With Thyroid Eye Disease in East Asians.
Baek et al., Seoul, South Korea. In Ann Plast Surg, Dec 2015
Preoperatively, upper eyelid retraction (MRD1; midpupil marginal reflex distance) ranged from 2.3 mm to 6.8 mm (mean, 5.23 ± 0.89) in 22 lids; postoperatively, lid retraction significantly decreased to 3.26 ± 1.23 mm (P = 0.03 by independent t test) (Table 2).
Accuracy of Marginal Reflex Distance Measurements in Eyelid Surgery.
Nemet, Israel. In J Craniofac Surg, Oct 2015
This study compares the accuracy of handheld ruler and slit lamp biomicroscope measurements of the MRD1 in patients with blepharoptosis.
Cytochrome P450 in living donor liver transplantation.
Chen et al., Kao-hsiung, Taiwan. In J Biomed Sci, 2014
This review focuses on recent findings regarding the biological expressions of the CYP2C19, CYP3A4, CYP3A5 and MRD1 genotypes in liver grafts before and after LDLT.
If not Angelman, what is it? A review of Angelman-like syndromes.
Williams et al., In Am J Med Genet A, 2014
deletion), MBD5 haploinsufficiency syndrome (chromosome 2q23.1 deletion), and KANSL1 haploinsufficiency syndrome (chromosome 17q21.31
Epilepsy associated with autism and attention deficit hyperactivity disorder: is there a genetic link?
Curatolo et al., Roma, Italy. In Brain Dev, 2014
The majority of the candidate genes are involved in synaptic formation/remodeling/maintenance (NRX1, CNTN4, DCLK2, CNTNAP2, TRIM32, ASTN2, CTNTN5, SYN1), neurotransmission (SYNGAP1, GABRG1, CHRNA7), or DNA methylation/chromatin remodeling (MBD5).
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Gusella et al., Boston, United States. In Cell, 2012
We sequenced BCAs in patients with autism or related NDDs, revealing disruption of 33 loci in four general categories: (1) genes previously associated with abnormal neurodevelopment (e.g., AUTS2, FOXP1, and CDKL5), (2) single-gene contributors to microdeletion syndromes (MBD5, SATB2, EHMT1, and SNURF-SNRPN), (3) novel risk loci (e.g., CHD8, KIRREL3, and ZNF507), and (4) genes associated with later-onset psychiatric disorders (e.g., TCF4, ZNF804A, PDE10A, GRIN2B, and ANK3).
Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.
Koike et al., Matsumoto, Japan. In Am J Med Genet A, 2012
involving four genes including MBD5.
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Elsea et al., Boston, United States. In Am J Hum Genet, 2011
MBD5 is a single causal locus as shown by 2q23.1 microdeletion syndrome with roles in intellectual disability, epilepsy, and autism spectrum disorder
2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.
Yoon et al., Toronto, Canada. In Am J Med Genet A, 2011
2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.
Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.
Elsea et al., Richmond, United States. In Eur J Hum Genet, 2010
Haploinsufficiency of MBD5 is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.(
The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA.
Defossez et al., Ipswich, United States. In Plos One, 2009
MBD5 and MBD6 are unlikely to be methyl-binding proteins, yet they may contribute to the formation or function of heterochromatin.
Mrd1p is required for release of base-paired U3 snoRNA within the preribosomal complex.
Wieslander et al., Stockholm, Sweden. In Mol Cell Biol, 2009
Mrd1p coordinates key events in biosynthesis of small ribosome subunits.
Potential for interaction of kava and St. John's wort with drugs.
Singh, Brookings, United States. In J Ethnopharmacol, 2005
However, its ability, through its active constituents hypericin, pseudohypericin and hyperforin, to induce intestinal P-glycoprotein/MRD1 and both intestinal and hepatic CYP3A4 enzyme, could markedly reduce the distribution and disposition of their co-substrates.
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