All affected male individuals share the typical clinical phenotype, all carrier females are unaffected and presented with a completely skewed X inactivation in blood. We conclude that 1.) [ncbi.nlm.nih.gov]

Acronym MRXSN Synonyms Mental retardation X-linked syndromic 30 MRXS30 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

We identified a series of patients with X-linked intellectual disability presenting mutations in the Rad6a (Ube2a) gene, which encodes for an E2 ubiquitin-conjugating enzyme. [semanticscholar.org]

Discussion In this study, we present eight new patients from five families with X-linked ID type Nascimento. [ojrd.biomedcentral.com]

312180 UniProt ID: P49459 Chromosome Location: Xq24 Pathway: Adaptive Immune System, organism-specific biosystem; Antigen processing: Ubiquitination and Proteasome degradation, organism-specific biosystem; Class I MHC mediated antigen processing & presentation [creativebiomart.net]

• Nail Abnormality

  MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures. [uniprot.org]

  MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures. Sequence Similarities: Belongs to the ubiquitin-conjugating enzyme family. [antibodies.com]

  MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures. {ECO:0000269 PubMed:16909393, ECO:0000269 PubMed:20412111}. [genecards.org]

• Hirsutism

  MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures. [uniprot.org]

  […] mutations in UBE2A (MIM *312180), is characterized by craniofacial dysmorphism (synophrys, prominent supraorbital ridges, deep-set, almond-shaped eyes, depressed nasal bridge, prominent columella, hypoplastic alae nasi, and macrostomia), skin anomalies (hirsutism [ncbi.nlm.nih.gov]

  Classification genetic, neurological Phenotypes Abnormal hair whorl ; Aggressive behavior ; Almond-shaped palpebral fissure ; Broad face ; Broad hallux ; Broad neck ; Deeply set eye ; Depressed nasal bridge ; Downturned corners of mouth ; Dry skin ; Echolalia ; Hirsutism [mousephenotype.org]

  UBE2A in a 4-year-old and 10-month-old boy with mental retardation and various other characteristics inherited from his mother; for example, marked developmental delay, synophrys, ocular hypertelorism, esotropia, low nasal bridge, marked generalized hirsutism [unboundmedicine.com]

  MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures. Sequence Similarities: Belongs to the ubiquitin-conjugating enzyme family. [antibodies.com]

• Dry Skin

  30; MRXS30 Classification genetic, neurological Phenotypes Abnormal hair whorl ; Aggressive behavior ; Almond-shaped palpebral fissure ; Broad face ; Broad hallux ; Broad neck ; Deeply set eye ; Depressed nasal bridge ; Downturned corners of mouth ; Dry [mousephenotype.org]

  There was dry skin and generalized hirsutism. [ojrd.biomedcentral.com]

• Hypertrichosis

  He had hypertelorism, a flat nasal bridge, synophrys, proximally inserted thumbs (see Figure 1 I), mild onychodystrophy of the feet (Figure 1 N) and a lumbar hypertrichosis. [ojrd.biomedcentral.com]

• Almond-Shaped Eyes

  Abstract X-linked intellectual disability type Nascimento (MIM #300860), caused by mutations in UBE2A (MIM *312180), is characterized by craniofacial dysmorphism (synophrys, prominent supraorbital ridges, deep-set, almond-shaped eyes, depressed nasal [ncbi.nlm.nih.gov]

  […] type Nascimento (MIM #300860), due to mutations in X-linked intellectual disability type Nascimento (MIM #300860), due to mutations in (MIM *312180), is normally seen as a craniofacial dysmorphism (synophrys, prominent supraorbital ridges, deep-set, almond-shaped [eyesoftheelephants.com]

  The facial phenotype is characterized by a broad face, flat midface, almond shaped eyes, ocular hypertelorism, low nasal bridge, prominent columella of the nose, hypoplastic alae nasi, and macrostomia. [ojrd.biomedcentral.com]

  2013 Português Relevância na Pesquisa 86.1% X-linked intellectual disability type Nascimento (MIM #300860), caused by mutations in UBE2A (MIM *312180), is characterized by craniofacial dysmorphism (synophrys, prominent supraorbital ridges, deep-set, almond-shaped [biblioteca.portalbolsasdeestudo.com.br]

• Enophthalmos

  Symptoms of Syndromic mental retardation, Nascimento type, X-linked Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Almond-shaped palpebral fissure Broad face Broad neck Downturned corners of mouth Enophthalmos [familydiagnosis.com]

• Widely Spaced Nipples

  spaced nipples, renal malformations). [ojrd.biomedcentral.com]

• Downturned Corners of the Mouth

  He presented with a broad face, synophrys, long eyelashes, upslanting palpebral fissures, short nose, macrostomia and down-turned corners of the mouth (see Figure 1 D), short and highly arched feet and myxoedematous appearance of the skin. [ojrd.biomedcentral.com]

• Wide Face

  (wide face, synophrys, prominent supraorbital ridges, deep-set, almond-shaped eyes, upslanting palpebral fissures, hypertelorism, depressed nasal bridge, prominent columella and hypoplastic alae nasi, macrostomia with downturned corners of the mouth) [ojrd.biomedcentral.com]

• Tremor

  He is current or past member of numerous scientific and medical advisory boards of national foundations including the Worldwide Education and Awareness for Movement Disorders (WE MOVE), Dystonia Medical Research Foundation, International Tremor Foundation [books.google.com]

  PubMed View Article Google Scholar Cabezas DA, Slaugh R, Abidi F, Arena JF, Stevenson RE, Schwartz CE, Lubs HA: A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25. [ojrd.biomedcentral.com]

More Symptoms of Syndromic mental retardation, Nascimento type, X-linked » • • • Back to: « Mental retardation Genetics of Syndromic mental retardation, Nascimento type, X-linked Treatments See also the following treatment articles: Treatments for Intellectual [familydiagnosis.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

We present a patient with 3M syndrome caused by the compound heterozygous mutations p.Trp68* and p.Gly1452Asp in CUL7, the latter of which is novel, who exhibited a good body height response to growth hormone treatment. [readbyqxmd.com]

Migration in the Mammalian Brain Zhang, Chi Fonte: Harvard University Publicador: Harvard University Tipo: Thesis or Dissertation Português Relevância na Pesquisa 106.25% Intellectual disability is a prevalent developmental disorder for which no effective treatments [biblioteca.portalbolsasdeestudo.com.br]

Interaktionspartner Human Ubiquitin-Conjugating Enzyme E2A (ube2a) Interaktionspartner RAD6 is upregulated in response to chemotherapy and significantly correlated with expression of ovarian cancer (OC) stem cell signaling genes ALDH1A1 and SOX2 and poor prognosis [antikoerper-online.de]

Chronic hepatitis Sample Type Sample Size Etiology Experiment Type Expression Level Fold Change (Tumor/Non-tumor) PubMed -NA- -NA- -NA- -NA- -NA- -NA- -NA- -NA- Cell Line Sample Type Sample Size Etiology Experiment Type Expression Level Fold Change [livercancerdatabase.in]

[…] cell}, year={2013}, volume={50 6}, pages={ 831-43 } } Dominik M Haddad, Sven Vilain, +11 authors Patrik Verstreken Published in Molecular cell 2013 DOI: 10.1016/j.molcel.2013.04.012 The prevalence of intellectual disability is around 3%; however, the etiology [semanticscholar.org]

It has made it possible to transform a group of rare neurological diseases into genetically identified etiologies, which has spurred a huge activity of patient initiatives and medication trials in rare epilepsies. [epilepsygenetics.net]

A genetic etiology is reported to account for as many as 60% of cases (McLaren and Bryson. 1987. PubMed ID: 3322329; Kaufman et al. 2010. PubMed ID: 21124998; Fieremans et al. 2016. PubMed ID: 27159028). [preventiongenetics.com]

Please prevent freeze thaw cycles. Concentration information loading... Stability and Storage Shipped at 4°C. [abcam.com]

Disruption of pre-TCR expression accelerates lymphomagenesis in E2A-deficient mice. signaling through Notch modulates the turnover of E2A proteins absence of mHR6A in oocytes prevents development beyond the embryonic two-cell stage Ubiquitin-Conjugating [antikoerper-online.de]

RAD6 promotes DNA repair and stem cell signaling in ovarian cancer and is a promising therapeutic target to prevent and treat acquired chemoresistance. [genscript.com]

At the same time, it has improved the clinical diagnosis of XLID and allowed for carrier detection and prevention strategies through gamete donation, prenatal diagnosis, and genetic counseling. [biblioteca.portalbolsasdeestudo.com.br]

[…] the innate-immune response, neuroinflammation and amyloidogenesis in Alzheimer’s and prion disease, age-related macular degeneration and in other neurological diseases was supported through an unrestricted grant to the LSU Eye Center from Research to Prevent [mdpi.com]