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Search references for PAX2. Phrases containing PAX2
See searches and references containing PAX2!PAX2
Protein-coding gene in humans
gene 2, also known as Pax-2, is a protein which in humans is encoded by the PAX2 gene. The Pax Genes, or Paired-Box Containing Genes, play important roles
PAX2
Medical condition
stalk causes optic disc dysplasia, which is caused by a mutation in the Pax2 gene. The nerve head typically resembles the morning glory disc anomaly,
Papillorenal_syndrome
Hole in one of the structures of the eye
coloboma.[citation needed] Coloboma can be associated with a mutation in the PAX2 gene. Eye abnormalities have been shown to occur in over 90% of children
Coloboma
Layer of cells in mammalian embryos
induction include the odd-skipped related gene (Osr1) and paired-box-2 gene (Pax2) which require intermediate levels of BMP signalling to activate Markers
Intermediate_mesoderm
Tubes in the human female reproductive system
development of the fallopian tubes include the Wnt and Hox groups of genes, Lim1, Pax2, and Emx2. Embryos have two pairs of ducts that will let gametes out of the
Fallopian_tube
Selective estrogen receptor modulator
cancers. Tamoxifen seems to require a protein PAX2 for its full anticancer effect. In the presence of high PAX2 expression, the tamoxifen/ER complex is able
Tamoxifen
Mammalian protein found in humans
when the ratio of the coactivator AIB-3 exceeds that of the corepressor PAX2, the expression of HER2 is upregulated in the presence of tamoxifen, leading
HER2
Congenital abnormality of the kidneys
this condition is in the mutations in kidney-related genes, namely, HNF1B, PAX2, PBX1. However, environmental factors like maternal diseases such as diabetes
Renal_hypoplasia
DNA pattern affecting anatomy development
GSC, GSC2; HESX1; HOPX; ISX; LEUTX; MIXL1; NOBOX; OTP; OTX1, OTX2, CRX; PAX2, PAX3, PAX4, PAX5, PAX6, PAX7, PAX8; PHOX2A, PHOX2B; PITX1, PITX2, PITX3;
Homeobox
Sheet of internal skeletal muscle
LZ (March 1999). "Characterization of an amphioxus paired box gene, AmphiPax2/5/8: developmental expression patterns in optic support cells, nephridium
Thoracic_diaphragm
Medical condition
polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie
Pitt–Hopkins_syndrome
Birth defect of the eye
HMGB3 HMX1 IGBP1 KAT6B KMT2D LRP2 MAB21L2 MAF MFRP NAA10 NDUFB11 NHS OTX2 PAX2 PAX6 PDE6D PIGL POLR1C POLR1D PORCN PQBP1 PRSS56 PTCH1 RAB3GAP1 RAB3GAP2
Microphthalmia
Medical condition
question occur at EYA1 or SIX1 genes (branchio-oto-renal syndrome). The PAX2 gene is also thought to play a role in MCDK. The contralateral kidney often
Multicystic_dysplastic_kidney
Paired ducts in the mammalian embryo in the primitive urogenital structures
fertilization. A ribbon of thickened coelomic epithelium is selected by PAX2, and in turn the FGFs, and in turn LHX1, to become the Müllerian surface
Paramesonephric_duct
Organ of hearing and balance
structures such as the cochlea is regulated by Dlx5/Dlx6, Otx1/Otx2 and Pax2, which in turn are controlled by the master gene Shh. Shh is secreted by
Ear
Structure of the developing embryo
ear structures is determined by homeobox transcription factors including PAX2, DLX5 and DLX6, with the former specifying for ventral otic vesicle derived
Otic_vesicle
Family of transcription factors
has been linked to undulated mutant suffering from skeletal malformations. PAX2 has been identified with kidney and optic nerve development. It transcribes
Pax_genes
Protein that regulates the rate of DNA transcription
since it is not clear that they are "drugable" but progress has been made on Pax2 and the notch pathway. Gene duplications have played a crucial role in the
Transcription_factor
Protein
Sequence NOLF Early B-cell factor 1 17 0.98 taagagTCCCcagggcagaaaca PAX2 Zebrafish PAX2 paired domain protein 18 0.8 aagagtccccagggcagAAACaa AP2F Transcription
CLIP4
Medical condition
polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie
Campomelic_dysplasia
Group of growth factor proteins
formation of the Mullerian duct is regulated by sequential actions of BMP/Pax2 and FGF/Lim1 signaling". Development. 143 (19): 3549–3559. doi:10.1242/dev
Bone_morphogenetic_protein
Protein found in humans
assists nuclear receptors in the upregulation of gene expression. The ratio of PAX2 to AIB-1 protein expression may be predictive of the effectiveness of tamoxifen
Nuclear receptor coactivator 3
Nuclear_receptor_coactivator_3
Common ancestor evolutionary evidence
(2003). "Role of Pax genes in eye evolution: A cnidarian PaxB gene uniting Pax2 and Pax6 functions" (PDF). Developmental Cell. 5 (5): 773–785. doi:10
Evidence_of_common_descent
Paired box Known motif – High-throughput in vitro [674] SGTCACGCWTSANTGVH PAX2 ENSG00000075891 Homeodomain; Paired box Known motif – High-throughput in
List of human transcription factors
List_of_human_transcription_factors
Type of autophagy
CMA substrates include, MEF2D, a neuronal factor important for survival; Pax2, a transcription factor, important for the regulation growth of renal tubular
Chaperone-mediated_autophagy
Sections of the genome experiencing minimal changes across species
SJ, et al. (1999). "Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome"
Ultraconserved_element
Embryonic structures that become gonads
inducing female sex cord formation, coordination between multiple genes (Bmp, Pax2, Lim1, and Wnt4 in mice) is required for Müllerian duct development. Once
Sex_cords
In the midbrain-hindbrain boundary region, its expression is regulated by PAX2. Long noncoding RNA GRCh38: Ensembl release 89: ENSG00000255794 – Ensembl
RMST_(gene)
Species of tunicate
higher vertebrates. As an example, the brachyury gene and the homolog of the PAX2 gene both play a similar role in the development of tunicates as they do
Oikopleura_dioica
is activated by Fgf8 signaling. En1 expression in cells that express both Pax2 and Otx2 leads to a midbrain identity/fate. Nakamura, H; Watanabe, Y (2005)
Isthmic_organizer
Protein-coding gene in the species Homo sapiens
transcription factors Lhx1, Pax2 and Wt1 which are involved in early urogenital development. In normal kidney development, activation of the Pax2-Eya1-Hox11 complex
OSR1
Developmental disorder involving the eye
Orofaciodigital syndrome type VI LRP5 AR Osteoporosis-pseudoglioma syndrome PAX2 AD Papillorenal syndrome ATOH7 AR Persistent fetal vasculature (PFV)/persistent
Syndromic_microphthalmia
Mammalian protein found in humans
that drive thyroid hormone synthesis (Tg, TPO, Slc5a5 and Tshr). PAX8 (and PAX2) is one of the important regulators of urogenital system morphogenesis. They
PAX8
Protein-coding gene in humans
PMID 18342846. Fabian P, Kozmikova I, Kozmik Z, Pantzartzi CN (2015). "Pax2/5/8 and Pax6 alternative splicing events in basal chordates and vertebrates:
PAX6
Medical condition
polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie
Tricho-rhino-phalangeal syndrome Type 1
Tricho-rhino-phalangeal_syndrome_Type_1
Protein-coding gene in the species Homo sapiens
implicated in Alzheimer's disease. PAXIP1 has been shown to interact with PAX2 and TP53BP1. GRCh38: Ensembl release 89: ENSG00000157212 – Ensembl, May 2017
PAXIP1
Medical classification system
utility of potential biomarkers of tamoxifen responsiveness such as HOXB13, PAX2, and estrogen receptor (ER) alpha and beta isoforms interaction with SRC3
Breast_cancer_classification
Genetic disease resulting in abnormal formation or function of cilia
300000 MID1 Pallister–Hall syndrome 146510 GLI3 Papillorenal syndrome 120330 PAX2 Renal–hepatic–pancreatic dysplasia 208540 NPHP3 Varadi–Papp syndrome (oral-facial-digital
Ciliopathy
Protein-coding gene in the species Homo sapiens
Dressler Gregory R (January 2002). "Phosphorylation of Pax2 by the c-Jun N-terminal kinase and enhanced Pax2-dependent transcription activation". J. Biol. Chem
MAPK8IP1
Protein-coding gene in the species Homo sapiens
Vasseur S, et al. (2002). "The HMG-I/Y-related protein p8 binds to p300 and Pax2 trans-activation domain-interacting protein to regulate the trans-activation
NUPR1
Protein-coding gene in the species Homo sapiens
Dressler GR (January 2002). "Phosphorylation of Pax2 by the c-Jun N-terminal kinase and enhanced Pax2-dependent transcription activation". J. Biol. Chem
MAPK8
The following is a partial list of the "D" codes for Medical Subject Headings (MeSH), as defined by the United States National Library of Medicine (NLM)
List of MeSH codes (D12.776.260)
List_of_MeSH_codes_(D12.776.260)
Protein-coding gene in the species Homo sapiens
including cAMP responsive element binding protein, SMAD3, KLF3, EGR1, SOX/SRY, PAX2/PAX5 and two SNP regions have been identified as well. The transcription
TM6SF2
HGNC:13071; Q9HBE1 11746 PAWR HGNC:8614; Q96IZ0 11747 PAX1 HGNC:8615; P15863 11748 PAX2 HGNC:8616; Q02962 11749 PAX3 HGNC:8617; P23760 11750 PAX4 HGNC:8618; O43316
List of human protein-coding genes 6
List_of_human_protein-coding_genes_6
atrophy-7; 612989; TMEM126A Optic nerve coloboma with renal disease; 120330; PAX2 Optic nerve hypoplasia and abnormalities of the central nervous system; 206900;
List_of_OMIM_disorder_codes
The following is a partial list of the "D" codes for Medical Subject Headings (MeSH), as defined by the United States National Library of Medicine (NLM)
List of MeSH codes (D12.776.930)
List_of_MeSH_codes_(D12.776.930)
Protein-coding gene in the species Homo sapiens
"The secreted frizzled related protein 2 (SFRP2) gene is a target of the Pax2 transcription factor". J. Biol. Chem. 278 (52): 52401–5. doi:10.1074/jbc
SFRP2
Swiss researcher
the sea urchin and Drosophila reveal an ancient evolutionary origin of the Pax2/5/8 subfamily". Mechanisms of Development. 67 (2): 179–192. doi:10
Meinrad_Busslinger
PAX2
PAX2
PAX2
PAX2
Boy/Male
Gujarati, Hindu, Indian, Kannada
Lord Krishna
Boy/Male
Hindu, Indian
Rock
Girl/Female
African, American, Greek, Gujarati, Hindu, Indian, Kannada, Malayalam, Marathi, Sanskrit, Sindhi, Swahili, Telugu
Graceful; Beautiful; Artistic; The Dark One; A Bud; Goddess Parvati; Goddess Kali; The Great Goddess; A Form of Durga; The Black One
Girl/Female
Gujarati, Hindu, Indian, Kannada, Malayalam, Marathi, Sanskrit, Telugu
By the Safe; Happy; Expert; Well Being
Girl/Female
Indian, Sanskrit
Incarnation of God; The Descent
Boy/Male
Gujarati, Hindu, Indian, Kannada, Malayalam, Marathi
Warrior of the Raghu Family; Lord Rama
Male
English
English surname transferred to unisex forename use, GARNET means "garnet (the gem)," derived from a Middle English altered form of Old French (pome) grenate, "fruit full of seeds," the same source from which came the name of the precious stone.Â
Girl/Female
Muslim
Ambergris.
Surname or Lastname
English (southwestern, also found in South Wales)
English (southwestern, also found in South Wales) : variant of Veazey.Americanized spelling of German Fehse, Vehse, variants of Feese.Americanized spelling of Swiss German Fäsi, from a pet form of the personal name Gervasius (see Gervais).
Girl/Female
Hindu, Indian, Japanese
Shadow
PAX2
PAX2
PAX2
PAX2
PAX2