X連鎖精神遅滞、X連鎖性精神遅滞
- 関
- MRX、X-linked mental retardation syndrome
WordNet
- the means of connection between things linked in series (同)nexus
- a unit of length equal to 1/100 of a chain
- an interconnecting circuit between two or more locations for the purpose of transmitting and receiving data (同)data link
- a fastener that serves to join or connect; "the walls are held together with metal links placed in the wet mortar during construction" (同)linkup, tie, tie-in
- (computing) an instruction that connects one part of a program or an element on a list to another program or list
- of or relating to the mind; "mental powers"; "mental development"; "mental hygiene"
- affected by a disorder of the mind; "a mental patient"; "mental illness"
- involving the mind or an intellectual process; "mental images of happy times"; "mental calculations"; "in a terrible mental state"; "mental suffering"; "free from mental defects"
- of or relating to the chin- or liplike structure in insects and certain mollusks
- the extent to which something is delayed or held back
- lack of normal development of intellectual capacities (同)mental_retardation, backwardness, slowness, subnormality
- the 24th letter of the Roman alphabet (同)x, ex
PrepTutorEJDIC
- (鎖の)『輪』,環 / 鎖のようにつながったソーセージの一節 / (…と)つなぐ物(人),(…との)きずな,つながり《+『with』(『to』)+『名』》 / 《複数形で》=cuff links / …‘を'『つなぎ合わせる』,連結する;(…と)…‘を'つなぐ《+『名』+『with』(『to』)+『名』》 / (…と)結合する,つながる《+[『up』(『together』)]『with』+『名』》
- たいまつ
- 『精神の』,心の / 頭脳の,知能の / 《名詞の前にのみ用いて》精神病の / 《名詞の前にのみ用いて》頭の中で行う / 《英話》《補語にのみ用いて》頭のおかしい,気がふれた
- 〈U〉遅延,遅滞 / 〈C〉遅らせるもの;妨害物 / 〈U〉〈C〉知能(学業など)の遅れ
- Christ / Christian
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/05/17 12:37:58」(JST)
[Wiki en表示]
| X-linked intellectual disability |
| Classification and external resources |
| MeSH |
D038901 |
X-linked intellectual disability (previously known as X-linked mental retardation) refers to forms of intellectual disability which are specifically associated with X-linked recessive inheritance.
As with most X-linked disorders, males are more heavily affected than females.[1] Females with one affected X chromosome and one normal X chromosome tend to have milder symptoms.
Unlike many other types of intellectual disability, the genetics of these conditions are relatively well understood.[2][3] It has been estimated there are ~200 genes involved in this syndrome; of these ~100 have been identified.[4]
X-linked intellectual disability accounts for ~16% of all cases of intellectual disability in males.
Syndromes
Several X-linked syndromes include intellectual disability as part of the presentation. These include Coffin-Lowry syndrome, MASA syndrome, X-linked alpha thalassemia mental retardation syndrome, and Mental retardation and microcephaly with pontine and cerebellar hypoplasia.
List of genes
Following is a list of genes located on the X chromosome and linked to intellectual disability. There are also several loci that have not been associated with a specific gene.
- IQSEC2: encodes an exchange factor for the Arf family of small GTP binding proteins, involved in the formation of secretory vesicles.[5]
- TM4SF2: is a member of the 4 transmembrane domains family of proteins (tetraspanins, see TSPAN7). This gene is also associated with neuropsychiatric diseases such as Huntington's chorea.[6]
- AP1S2: AP-1 complex subunit sigma-2.[7][8] Adaptor protein complex 1 is found on the cytoplasmic face of vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors.
- ACSL4: Long-chain-fatty-acid—CoA ligase 4 is an enzyme of the long-chain fatty-acid-coenzyme A ligase family. It converts free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation.[9] This isozyme preferentially utilizes arachidonate as substrate.
- ZNF41: Zinc finger protein 41 is a likely zinc finger family transcription factor.[10]
- DLG3: Disks large homolog 3, also named neuroendocrine-DLG or synapse-associated protein 102 (SAP-102).[11] DLG3 is a member of the membrane-associated guanylate kinase (MAGUK) superfamily.
- FTSJ1: Putative ribosomal RNA methyltransferase 1 is a member of the S-adenosylmethionine-binding protein family. This nucleolar protein may be involved in the processing and modification of rRNA.[12]
- GDI1: RabGDI alpha makes a complex with geranylgeranylated small GTP-binding proteins of the Rab family and keeps them in the cytosol.
- MECP2: methyl CpG binding protein 2 is a transcription regulator, which represses transcription from methylated gene promoters. It appears to be essential for the normal function of nerve cells.[13] In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of intellectual disability in women.
- ARX: Aristaless related homeobox, is a protein associated with intellectual disability and lissencephaly. This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is involved in CNS and pancreas development. Mutations in this gene cause X-linked intellectual disability and epilepsy.[14]
- JARID1C: Lysine-specific demethylase 5C is an enzyme that in humans is encoded by the KDM5C gene a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling.[15]
- PHF8: PHD finger protein 8 belongs to the family of ferrous iron and 2-oxoglutarate dependent oxygenases,[16] and is an histone lysine demethylase with selectivity for the di-and monomethyl states.[17]
- FMR2: Fragile Mental Retardation 2 (FMR2: synonym AFF2),[18] the protein belongs to the AFF family which currently has four members: AFF1/AF4, AFF2/FMR2, AFF3/LAF4 and AFF4/AF5q31.[19] All AFF proteins are localized in the nucleus and have a role as transcriptional activators with a positive action on RNA elongation. AFF2/FMR2, AFF3/LAF4 and AFF4/AF5q31 localize in nuclear speckles (subnuclear structures considered to be storage/modification sites of pre-mRNA splicing factors) and are able to bind RNA with a high apparent affinity for the G-quadruplex structure. They appear to modulate alternative splicing via the interaction with the G-quadruplex RNA-forming structure.
- Slc6a8: Creatine transporter is a protein that is required for creatine to enter the cell. Creatine is essential for maintaining ATP levels in cells with a high energy demand.[20]
References
- ^ "Fragile X Syndrome - X-linked Mental Retardation and Macroorchidism". International Birth Defect Information Systems. Retrieved 2010-12-10.
- ^ Ropers, H. -H.; Hamel, B. C. J. (2005). "X-linked mental retardation". Nature Reviews Genetics 6 (1): 46–57. doi:10.1038/nrg1501. PMID 15630421. edit
- ^ Lugtenberg, D.; Veltman, J. A.; Van Bokhoven, H. (2007). "High-resolution genomic microarrays for X-linked mental retardation". Genetics in Medicine 9 (9): 560–565. doi:10.1097/GIM.0b013e318149e647. PMID 17873643. edit
- ^ Stevenson, R. E.; Schwartz, C. E. (2009). "X-linked intellectual disability: Unique vulnerability of the male genome". Developmental Disabilities Research Reviews 15 (4): 361–368. doi:10.1002/ddrr.81. PMID 20014364. edit
- ^ Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gécz J (June 2010). "Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability". Nat. Genet. 42 (6): 486–8. doi:10.1038/ng.588. PMID 20473311.
- ^ Abidi FE, Holinski-Feder E, Rittinger O, Kooy F, Lubs HA, Stevenson RE, Schwartz CE (Jun 2002). "A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58". J Med Genet 39 (6): 430–3. doi:10.1136/jmg.39.6.430. PMC 1735161. PMID 12070254.
- ^ Tarpey PS, Stevens C, Teague J, Edkins S, O'Meara S, Avis T, Barthorpe S, Buck G, Butler A, Cole J, Dicks E, Gray K, Halliday K, Harrison R, Hills K, Hinton J, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Tofts C, Varian J, West S, Widaa S, Yates A, Catford R, Butler J, Mallya U, Moon J, Luo Y, Dorkins H, Thompson D, Easton DF, Wooster R, Bobrow M, Carpenter N, Simensen RJ, Schwartz CE, Stevenson RE, Turner G, Partington M, Gecz J, Stratton MR, Futreal PA, Raymond FL (Dec 2006). "Mutations in the Gene Encoding the Sigma 2 Subunit of the Adaptor Protein 1 Complex, AP1S2, Cause X-Linked Mental Retardation". Am J Hum Genet 79 (6): 1119–24. doi:10.1086/510137. PMC 1698718. PMID 17186471.
- ^ "Entrez Gene: AP1S2 adaptor-related protein complex 1, sigma 2 subunit".
- ^ Piccini M, Vitelli F, Bruttini M, Pober BR, Jonsson JJ, Villanova M, Zollo M, Borsani G, Ballabio A, Renieri A (Apr 1998). "FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation". Genomics 47 (3): 350–8. doi:10.1006/geno.1997.5104. PMID 9480748.
- ^ Franze A, Archidiacono N, Rocchi M, Marino M, Grimaldi G (Jul 1991). "Isolation and expression analysis of a human zinc finger gene (ZNF41) located on the short arm of the X chromosome". Genomics 9 (4): 728–36. doi:10.1016/0888-7543(91)90367-N. PMID 2037297.
- ^ Stathakis DG, Lee D, Bryant PJ (Aug 1998). "DLG3, the gene encoding human neuroendocrine Dlg (NE-Dlg), is located within the 1.8-Mb dystonia-parkinsonism region at Xq13.1". Genomics 49 (2): 310–3. doi:10.1006/geno.1998.5243. PMID 9598320.
- ^ Ramser J, Winnepenninckx B, Lenski C, Errijgers V, Platzer M, Schwartz CE, Meindl A, Kooy RF (Sep 2004). "A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)". J Med Genet 41 (9): 679–83. doi:10.1136/jmg.2004.019000. PMC 1735884. PMID 15342698.
- ^ Chahrour M et al. (2008). "MeCP2, a key contributor to neurological disease, activates and represses transcription". Science 320 (5880): 1224–9. doi:10.1126/science.1153252. PMC 2443785. PMID 18511691.
- ^ Bienvenu T, Poirier K, Friocourt G et al. (2003). "ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation". Hum. Mol. Genet. 11 (8): 981–91. doi:10.1093/hmg/11.8.981. PMID 11971879.
- ^ Jensen LR (2005). "Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation". Am. J. Hum. Genet. 76 (2): 227–36. doi:10.1086/427563. PMC 1196368. PMID 15586325.
- ^ Loenarz, C.; Schofield, C. J. (2008). "Expanding chemical biology of 2-oxoglutarate oxygenases". Nat. Chem. Biol. 4 (3): 152–156. doi:10.1038/nchembio0308-152. PMID 18277970.
- ^ Loenarz, C.; Ge W., Coleman M. L., Rose N. R., Cooper C. D. O., Klose R. J., Ratcliffe P. J., Schofield, C. J. (2009). "PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an N{varepsilon}-dimethyl lysine demethylase". Hum. Mol. Genet. 19 (2): 217–22. doi:10.1093/hmg/ddp480. PMID 19843542.
- ^ Stettner GM, Shoukier M, Höger C, Brockmann K, Auber B (August 2011). "Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion". Am. J. Med. Genet. A 155A (8): 2003–7. doi:10.1002/ajmg.a.34122. PMID 21739600.
- ^ Melko M, Douguet D, Bensaid M et al. (May 2011). "Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability". Hum. Mol. Genet. 20 (10): 1873–85. doi:10.1093/hmg/ddr069. PMID 21330300.
- ^ Cecil, KM; Salomons, GS; Ball WS, Jr; Wong, B; Chuck, G; Verhoeven, NM; Jakobs, C; DeGrauw, TJ (Mar 2001). "Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?". Annals of neurology 49 (3): 401–4. doi:10.1002/ana.79. PMID 11261517.
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Sex linkage: X-linked disorders
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X-linked recessive
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| Immune |
- Chronic granulomatous disease (CYBB)
- Wiskott–Aldrich syndrome
- X-linked severe combined immunodeficiency
- X-linked agammaglobulinemia
- Hyper-IgM syndrome type 1
- IPEX
- X-linked lymphoproliferative disease
- Properdin deficiency
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| Hematologic |
- Haemophilia A
- Haemophilia B
- X-linked sideroblastic anemia
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| Endocrine |
- Androgen insensitivity syndrome/Spinal and bulbar muscular atrophy
- KAL1 Kallmann syndrome
- X-linked adrenal hypoplasia congenita
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| Metabolic |
- Amino acid: Ornithine transcarbamylase deficiency
- Oculocerebrorenal syndrome
- Dyslipidemia: Adrenoleukodystrophy
- Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency
- Pyruvate dehydrogenase deficiency
- Danon disease/glycogen storage disease Type IIb
- Lipid storage disorder: Fabry's disease
- Mucopolysaccharidosis: Hunter syndrome
- Purine-pyrimidine metabolism: Lesch–Nyhan syndrome
- Mineral: Menkes disease/Occipital horn syndrome
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| Nervous system |
- X-linked mental retardation: Coffin–Lowry syndrome
- MASA syndrome
- X-linked alpha thalassemia mental retardation syndrome
- Siderius X-linked mental retardation syndrome
- Eye disorders: Color blindness (red and green, but not blue)
- Ocular albinism (1)
- Norrie disease
- Choroideremia
- Other: Charcot–Marie–Tooth disease (CMTX2-3)
- Pelizaeus–Merzbacher disease
- SMAX2
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| Skin and related tissue |
- Dyskeratosis congenita
- Hypohidrotic ectodermal dysplasia (EDA)
- X-linked ichthyosis
- X-linked endothelial corneal dystrophy
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| Neuromuscular |
- Becker's muscular dystrophy/Duchenne
- Centronuclear myopathy (MTM1)
- Conradi–Hünermann syndrome
- Emery–Dreifuss muscular dystrophy 1
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| Urologic |
- Alport syndrome
- Dent's disease
- X-linked nephrogenic diabetes insipidus
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| Bone/tooth |
- AMELX Amelogenesis imperfecta
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| No primary system |
- Barth syndrome
- McLeod syndrome
- Smith–Fineman–Myers syndrome
- Simpson–Golabi–Behmel syndrome
- Mohr–Tranebjærg syndrome
- Nasodigitoacoustic syndrome
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X-linked dominant
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- X-linked hypophosphatemia
- Focal dermal hypoplasia
- Fragile X syndrome
- Aicardi syndrome
- Incontinentia pigmenti
- Rett syndrome
- CHILD syndrome
- Lujan–Fryns syndrome
- Orofaciodigital syndrome 1
- Craniofrontonasal dysplasia
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Cell membrane protein disorders (other than Cell surface receptor, enzymes, and cytoskeleton)
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| Arrestin |
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| Myelin |
- Pelizaeus–Merzbacher disease
- Dejerine–Sottas disease
- Charcot–Marie–Tooth disease 1B, 2J
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| Pulmonary surfactant |
- Surfactant metabolism dysfunction 1, 2
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| Cell adhesion molecule |
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IgSF CAM:
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Cadherin:
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- DSG1
- Striate palmoplantar keratoderma 1
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- DSG2
- Arrhythmogenic right ventricular dysplasia 10
- DSG4
- DSC2
- Arrhythmogenic right ventricular dysplasia 11
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Integrin:
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- cell surface receptor deficiencies
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| Tetraspanin |
- TSPAN7
- X-Linked mental retardation 58
- TSPAN12
- Familial exudative vitreoretinopathy 5
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| Other |
- KIND1
- HFE
- HFE hereditary haemochromatosis
- DYSF
- Distal muscular dystrophy
- Limb-girdle muscular dystrophy 2B
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See also other cell membrane proteins
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Index of cells
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| Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
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| Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
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Deficiencies of intracellular signaling peptides and proteins
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| GTP-binding protein regulators |
| GTPase-activating protein |
- Neurofibromatosis type I
- Watson syndrome
- Tuberous sclerosis
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| Guanine nucleotide exchange factor |
- Marinesco–Sjögren syndrome
- Aarskog–Scott syndrome
- Juvenile primary lateral sclerosis
- X-Linked mental retardation 1
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| G protein |
| Heterotrimeic |
- cAMP/GNAS1: Pseudopseudohypoparathyroidism
- Progressive osseous heteroplasia
- Pseudohypoparathyroidism
- Albright's hereditary osteodystrophy
- McCune–Albright syndrome
- CGL 2
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| Monomeric |
- RAS: HRAS
- KRAS
- Noonan syndrome 3
- KRAS Cardiofaciocutaneous syndrome
- RAB: RAB7
- Charcot–Marie–Tooth disease
- RAB23
- RAB27
- Griscelli syndrome type 2
- RHO: RAC2
- Neutrophil immunodeficiency syndrome
- ARF: SAR1B
- Chylomicron retention disease
- ARL13B
- ARL6
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| MAP kinase |
- Cardiofaciocutaneous syndrome
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| Other kinase/phosphatase |
| Tyrosine kinase |
- BTK
- X-linked agammaglobulinemia
- ZAP70
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| Serine/threonine kinase |
- RPS6KA3
- CHEK2
- IKBKG
- STK11
- DMPK
- ATR
- GRK1
- WNK4/WNK1
- Pseudohypoaldosteronism 2
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| Tyrosine phosphatase |
- PTEN
- Bannayan–Riley–Ruvalcaba syndrome
- Lhermitte–Duclos disease
- Cowden syndrome
- Proteus-like syndrome
- MTM1
- X-linked myotubular myopathy
- PTPN11
- Noonan syndrome 1
- LEOPARD syndrome
- Metachondromatosis
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| Signal transducing adaptor proteins |
- EDARADD
- EDARADD Hypohidrotic ectodermal dysplasia
- SH3BP2
- LDB3
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| Other |
- NF2
- Neurofibromatosis type II
- NOTCH3
- PRKAR1A
- PRKAG2
- Wolff–Parkinson–White syndrome
- PRKCSH
- PRKCSH Polycystic liver disease
- XIAP
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See also intracellular signaling peptides and proteins
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Index of cells
|
|
| Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
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|
| Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
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Inherited disorders of trafficking / vesicular transport proteins
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| Vesicle formation |
| Lysosome/Melanosome: |
- HPS1-HPS7
- Hermansky–Pudlak syndrome
- LYST
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| COPII: |
- SEC23A
- Cranio–lenticulo–sutural dysplasia
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| APC: |
- AP1S2
- X-linked intellectual disability
- AP3B1
- Hermansky–Pudlak syndrome 2
- AP4M1
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| Rab |
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| Cytoskeleton |
| Myosin: |
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| Microtubule: |
- SPG4
- Hereditary spastic paraplegia 4
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| Kinesin: |
- KIF5A
- Hereditary spastic paraplegia 10
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| Spectrin: |
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| Vesicle fusion |
| Synaptic vesicle: |
- SNAP29
- STX11
- Hemophagocytic lymphohistiocytosis 4
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| Caveolae: |
- CAV1
- Congenital generalized lipodystrophy 3
- CAV3
- Limb-girdle muscular dystrophy 2B, Long QT syndrome 9
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| Vacuolar protein sorting: |
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- DYSF
- Distal muscular dystrophy
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See also vesicular transport proteins
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Index of cells
|
|
| Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
|
|
| Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
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UpToDate Contents
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English Journal
- Prognostic significance of histomolecular subgroups of adult anaplastic (WHO Grade III) gliomas: applying the 'integrated' diagnosis approach.
- Rajmohan KS1, Sugur HS1, Shwetha SD1, Ramesh A1, Thennarasu K2, Pandey P3, Arivazhagan A3, Santosh V1.
- Journal of clinical pathology.J Clin Pathol.2016 Jan 7. pii: jclinpath-2015-203456. doi: 10.1136/jclinpath-2015-203456. [Epub ahead of print]
- AIMS: Anaplastic gliomas (AGs; WHO Grade III) include anaplastic astrocytoma (AA), anaplastic oligodendroglioma (AO) and anaplastic oligoastrocytoma (AOA) and are known to have variable prognosis. Since biomarkers have a major impact on prognosis of gliomas, we compared the prognostic significance o
- PMID 26743027
- Homozygous c.1160C>T (P38L) in the MECP2 gene in a female Rett syndrome patient.
- Bhanushali AA1, Mandsaurwala A1, Das BR2.
- Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia.J Clin Neurosci.2016 Jan 2. pii: S0967-5868(15)00624-4. doi: 10.1016/j.jocn.2015.08.040. [Epub ahead of print]
- Rett syndrome is a severe X-linked dominant neurodevelopmental disorder. Mutations in the MECP2 gene on chromosome Xq28 have been shown to be the cause of Rett syndrome. Sequencing of the MECP2 gene in a patient with clinical suspicion of Rett syndrome revealed c.1160C>T (P387L) in exon 4 of the
- PMID 26755454
- Combined ATRX/IDH1 immunohistochemistry predicts genotype of oligoastrocytomas.
- Hewer E1, Vajtai I1, Dettmer MS1, Berezowska S1, Vassella E1.
- Histopathology.Histopathology.2016 Jan;68(2):272-8. doi: 10.1111/his.12743. Epub 2015 Jul 27.
- AIMS: To assess whether in oligoastrocytomas ATRX deficiency, as a surrogate of the alternative lengthening of telomeres (ALT) pathway, has a role in predicting the presence or absence of loss of heterozygosity (LOH) of 1p and 19q, the genetic signature of oligodendroglial differentiation and a fav
- PMID 26016385
Japanese Journal
- Epileptic spasmsを呈したMECP2領域微細重複症候群の一例
- 衞藤 薫/坂内 優子/島田 姿野/大谷 ゆい/塩田 睦記/石垣 景子/下島 圭子/山本 俊至/小國 弘量/大澤 眞木子
- 東京女子医科大学雑誌 83(E1), E250-E254, 2013-01-31
- … 【はじめに】methyl CpG binding protein 2 gene (MECP2) 領域の微細重複症候群はX連鎖精神発達遅滞の原因のひとつであり、乳児期の筋緊張低下、重度精神遅滞、自閉症、てんかん、特異顔貌、頻回の気道感染を特徴とするが、臨床像の報告は少ない。 …
- NAID 110009559411
- Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation
- Honda Shozo,Satomura Shigeko,Hayashi Shin [他],IMOTO Issei,NAKAGAWA Eiji,GOTO Yu-ichi,INAZAWA Johji,the Japanese Mental Retardation Consortium
- Journal of human genetics 57(1), 73-77, 2012-01-01
- NAID 10030662505
Related Links
- Clinical test for Mental retardation, X-linked, nonspecific offered by Medizinisch Genetisches Zentrum München ... Imported from OMIM Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in ...
- 1. Med Sci Monit. 2008 Nov;14(11):RA221-9. X-linked mental retardation. Lisik MZ, Sieron AL. Department of General and Molecular Biology and Genetics, Medical University of Silesia Katowice, Poland. mlisik@slam.katowice.pl ...
Related Pictures
★リンクテーブル★
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- 英
- X-linked mental retardation、MRX
- 関
- X連鎖性精神遅滞症候群、X連鎖精神遅滞
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- 英
- X-linked mental retardation
- 関
- X連鎖性精神遅滞、X連鎖性精神遅滞症候群
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- 関
- X-linked mental retardation
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X連鎖精神遅滞症候群、X連鎖性精神遅滞症候群
- 関
- X-linked mental retardation
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- 関
- associate、association、attach、bearing、bind、catenate、catenation、concatenation、connect、connection、correlate、correlation、implicate、implication、join、juncture、ligate、ligation、linkage、linked、pertinent、reference、relate、relation、relationship、relative、relevance、relevant
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- 関
- mentality、mentally、psychic、psychological、spiritual
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- 関
- (adj.)retard
- 関
- deceleration、delay、[[]]
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- 関
- catenation、link、linkage
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キサントシン, xanthosine