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PITX2

  • PITX2
  • Protein-coding gene in the species Homo sapiens

    known as pituitary homeobox 2 is a protein that in humans is encoded by the PITX2 gene. This gene encodes a member of the RIEG/PITX homeobox family, which

    PITX2

    PITX2

    PITX2

  • Axenfeld–Rieger syndrome
  • Medical condition

    The genes that have been identified in approximately 50% of cases are PITX2 and FOXC1. Axenfeld–Rieger syndrome is part of the so-called iridocorneal

    Axenfeld–Rieger syndrome

    Axenfeld–Rieger syndrome

    Axenfeld–Rieger_syndrome

  • Symmetry in biology
  • Geometric symmetry in living beings

    and LEFTY2 that activate PITX2 to signal the development of left side structures. Whereas, the right side does not express PITX2 and consequently develops

    Symmetry in biology

    Symmetry in biology

    Symmetry_in_biology

  • Glaucoma
  • Group of eye diseases related to poor retinal and nerve perfusion

    syndrome is inherited in an autosomal dominant fashion and is associated with PITX2 or FOXC1. The total prevalence of glaucoma is about the same in North America

    Glaucoma

    Glaucoma

    Glaucoma

  • Left-right asymmetry
  • Early process which breaks bilateral symmetry during embryonic development

    where it activates a further signalling cascade of genes including Nodal, Pitx2 and Lefty2. In chickens, LR asymmetry is established at a structure called

    Left-right asymmetry

    Left-right_asymmetry

  • Situs inversus
  • Condition in which organs are reversed

    Pagán-Westphal SM, Smith DM, Paganessi L, Tabin CJ (1998). "The transcription factor Pitx2 mediates situs-specific morphogenesis in response to left-right asymmetric

    Situs inversus

    Situs inversus

    Situs_inversus

  • Atrial fibrillation
  • Irregular beating of the atria of the heart

    genes that encode transcription factors, such as TBX3 and TBX5, NKX2-5 or PITX2, involved in the regulation of cardiac conduction, modulation of ion channels

    Atrial fibrillation

    Atrial fibrillation

    Atrial_fibrillation

  • Tubular heart
  • signalling. By day 19 of development, Nodal activates pitx2 on the left side of the embryo. Pitx2 activates or represses multiple downstream genes and

    Tubular heart

    Tubular heart

    Tubular_heart

  • Pitt–Hopkins syndrome
  • Medical condition

    PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous

    Pitt–Hopkins syndrome

    Pitt–Hopkins syndrome

    Pitt–Hopkins_syndrome

  • List of genetic disorders
  • Dominant Ataxia telangiectasia ATM 1:40,000-1,000,000 Axenfeld syndrome PITX2, FOXO1A, FOXC1, PAX6 1:200,000 Bainbridge–Ropers syndrome ASXL3 de novo

    List of genetic disorders

    List_of_genetic_disorders

  • Limb bud
  • Structure formed early in vertebrate limb development

    develop in the presence of either Tbx4 or Tbx5. In fact, it is the Pitx1 and Pitx2 genes that appears to be necessary for specification of the developing hindlimb

    Limb bud

    Limb bud

    Limb_bud

  • Epigenomics AG
  • SHOX2 - Measurement in lung fluid to aid in diagnosis of lung cancer. PITX2 - Measurement in prostate tissue as a prognosis factor for prostate cancer

    Epigenomics AG

    Epigenomics_AG

  • Campomelic dysplasia
  • Medical condition

    PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous

    Campomelic dysplasia

    Campomelic dysplasia

    Campomelic_dysplasia

  • FOXJ1
  • Protein-coding gene in the species Homo sapiens

    mutation in PITX2 a regulatory protein of the FOXJ1 gene. PITX2 alongside LEF-1 and β-Catenin regulate FOXJ1. FOXJ1 in turn interacts with PITX2 to form a

    FOXJ1

    FOXJ1

    FOXJ1

  • Protein signalling in heart development
  • the looping requires the asymmetrically localized transcription factor Pitx2. The direction of asymmetry is established much earlier during embryonic

    Protein signalling in heart development

    Protein_signalling_in_heart_development

  • Anterior segment mesenchymal dysgenesis
  • Medical condition

    regulators. In this review, the role of the anterior segment dysgenesis genes PITX2 and FOXC1 is considered in relation to the embryology of the anterior segment

    Anterior segment mesenchymal dysgenesis

    Anterior segment mesenchymal dysgenesis

    Anterior_segment_mesenchymal_dysgenesis

  • Genome-wide association study
  • Study of genetic variants in different individuals

    with transcription factor coding-genes, such as TBX3 and TBX5, NKX2-5 o PITX2, which are involved in cardiac conduction regulation, in ionic channel modulation

    Genome-wide association study

    Genome-wide association study

    Genome-wide_association_study

  • Homeobox
  • DNA pattern affecting anatomy development

    CRX; PAX2, PAX3, PAX4, PAX5, PAX6, PAX7, PAX8; PHOX2A, PHOX2B; PITX1, PITX2, PITX3; PROP1; PRRX1, PRRX2; RAX, RAX2; RHOXF1, RHOXF2/2B; SEBOX; SHOX,

    Homeobox

    Homeobox

    Homeobox

  • Nodal signaling pathway
  • Cellular process in embryonic development

    Studies on the nodal signaling pathway and its downstream targets such as PITX2 in other animals have shown it may also control left-right asymmetric patterning

    Nodal signaling pathway

    Nodal_signaling_pathway

  • Clifford Tabin
  • American geneticist

    Smith, D. M.; Paganessi, L; Tabin, C. J. (1998). "The transcription factor Pitx2 mediates situs-specific morphogenesis in response to left-right asymmetric

    Clifford Tabin

    Clifford Tabin

    Clifford_Tabin

  • Strømme syndrome
  • Rare genetic condition involving intestinal atresia, eye abnormalities and microcephaly

    Hoonaard TL, Gischler SJ (February 2008). "Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia

    Strømme syndrome

    Strømme syndrome

    Strømme_syndrome

  • Postcanine megadontia
  • Relative enlargement of pre-molars and molars compared with other teeth

    tooth formation include BMP4, FGF8, and homeobox genes such as MSX1, PAX9, PITX2, SHOX2, Barx1, and Shh to name a few. Research suggests that homeobox genes

    Postcanine megadontia

    Postcanine megadontia

    Postcanine_megadontia

  • Anodontia
  • Absence of all primary or permanent teeth at birth

    Other genes such as MSX1, PAX9, IRF6, GREM2, AXIN2, LRP6, SMOC2, LTBP3, PITX2, and WNT10B. The WNT10A gene is considered to be the major gene involved

    Anodontia

    Anodontia

    Anodontia

  • Tricho-rhino-phalangeal syndrome Type 1
  • Medical condition

    PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous

    Tricho-rhino-phalangeal syndrome Type 1

    Tricho-rhino-phalangeal_syndrome_Type_1

  • List of human transcription factors
  • ENSG00000069011 Homeodomain Known motif – High-throughput in vitro [699] HTAATCC PITX2 ENSG00000164093 Homeodomain Known motif – High-throughput in vitro [700]

    List of human transcription factors

    List_of_human_transcription_factors

  • DLX2
  • Mammalian protein found in Homo sapiens

    phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain protein". Biochemistry. 44 (10): 3942–54. doi:10.1021/bi048362x

    DLX2

    DLX2

    DLX2

  • Polysplenia
  • Developmental failure in spleen formation

    Two secreted ligands of the TFG-β superfamily amplify the expression of PITX2 transcription factor, a key determinant of left identity. The CFC1 gene

    Polysplenia

    Polysplenia

    Polysplenia

  • Hematopoietic stem cell niche
  • Biological term

    that can stimulate Wnt signaling in HSCs. Transcription factors such as PITX2 must be expressed in stromal cells to support normal HSC function. Like

    Hematopoietic stem cell niche

    Hematopoietic_stem_cell_niche

  • Iris hypoplasia with glaucoma
  • Medical condition

    Hitoshi; Shimozato, Kazuo; Matsumoto, Naomichi (2014-07-31). "A novel PITX2 mutation causing iris hypoplasia". Human Genome Variation. 1 (1): 14005

    Iris hypoplasia with glaucoma

    Iris hypoplasia with glaucoma

    Iris_hypoplasia_with_glaucoma

  • PROP1
  • Human gene

    Russo AF (1998). "The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities". J. Biol. Chem. 273 (32): 20066–72. doi:10

    PROP1

    PROP1

    PROP1

  • James Francis Martin
  • American physician-scientist

    functions of BMP signaling, Wnt signaling, and the transcription factor Pitx2 in the regulation of heart, craniofacial, and limb development in mice.

    James Francis Martin

    James_Francis_Martin

  • Selection and amplification binding assay
  • Molecular biology technique

    Amendt BA, Sutherland LB, Russo AF (1999). "Multifunctional role of the Pitx2 homeodomain protein C-terminal tail". Molecular and Cellular Biology. 19

    Selection and amplification binding assay

    Selection_and_amplification_binding_assay

  • Forkhead box C1
  • Protein-coding gene in the species Homo sapiens

    Betinjane AJ, Alward WL, Stone EM, et al. (February 2002). "Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil". Journal of Glaucoma

    Forkhead box C1

    Forkhead box C1

    Forkhead_box_C1

  • Barx homeobox 1
  • Human protein

    2018-07-10. Lowry RB, Gould DB, Walter MA, Savage PR (June 2007). "Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly

    Barx homeobox 1

    Barx homeobox 1

    Barx_homeobox_1

  • Bone morphogenetic protein 10
  • Protein-coding gene in the species Homo sapiens

    PM, Kabir SN, et al. (August 2020). "Reduced left atrial cardiomyocyte PITX2 and elevated circulating BMP10 predict atrial fibrillation after ablation"

    Bone morphogenetic protein 10

    Bone morphogenetic protein 10

    Bone_morphogenetic_protein_10

  • List of human protein-coding genes 6
  • Q9BZ71 12201 PITRM1 HGNC:17663; Q5JRX3 12202 PITX1 HGNC:9004; P78337 12203 PITX2 HGNC:9005; Q99697 12204 PITX3 HGNC:9006; O75364 12205 PIWIL1 HGNC:9007;

    List of human protein-coding genes 6

    List_of_human_protein-coding_genes_6

  • GCM1
  • Protein-coding gene in the species Homo sapiens

    cooperative promoter modulation, and renal colocalization of GCMa and Pitx2". J. Biol. Chem. 279 (48): 50358–65. doi:10.1074/jbc.M404587200. PMID 15385555

    GCM1

    GCM1

    GCM1

  • OSR1
  • Protein-coding gene in the species Homo sapiens

    transcription factors important for atrial septum formation such as Nkx2.5, Pitx2 and Tbx5. Deleting Osr1 in second heart field demonstrated absence of the

    OSR1

    OSR1

    OSR1

  • PITX1
  • Protein-coding gene in humans

    v t e PDB gallery 1yz8: Solution structure of the k50 class homeodomain pitx2 bound to dna and implications for mutations that cause rieger syndrome

    PITX1

    PITX1

    PITX1

  • List of OMIM disorder codes
  • metaphyseal dysplasia; 240300; AIRE Axenfeld–Rieger syndrome, type 1; 180500; PITX2 Axenfeld–Rieger syndrome, type 3; 602482; FOXC1 Azoospermia due to perturbations

    List of OMIM disorder codes

    List_of_OMIM_disorder_codes

  • Keratocan
  • associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2". Ophthalmic Genet. 28 (2): 57–67. doi:10.1080/13816810701351321. PMID 17558846

    Keratocan

    Keratocan

    Keratocan

  • Vascular remodelling in the embryo
  • Biological process

    can create asymmetry, perhaps by preferentially activating genes such as PITX2 on one side of the vessel, or perhaps by inducing circumferential stretch

    Vascular remodelling in the embryo

    Vascular remodelling in the embryo

    Vascular_remodelling_in_the_embryo

  • Margaret Buckingham
  • French-British biologist

    constitute stem cells for muscle regeneration. They identified genes, including Pitx2/3, that affect the behaviour of these cells and showed that Myf5 mRNA, present

    Margaret Buckingham

    Margaret Buckingham

    Margaret_Buckingham

  • CHODL
  • Protein-coding gene in humans

    "Identification of novel spinal cholinergic genetic subtypes disclose Chodl and Pitx2 as markers for fast motor neurons and partition cells". J Comp Neurol. 518

    CHODL

    CHODL

    CHODL

  • SHROOM3
  • Protein-coding gene in the species Homo sapiens

    PMID 21880782. Plageman TF, Zacharias AL, Gage PJ, Lang RA (2011). "Shroom3 and a Pitx2-N-cadherin pathway function cooperatively to generate asymmetric cell shape

    SHROOM3

    SHROOM3

    SHROOM3

  • Baek Sung-hee
  • South Korean molecular geneticist (born 1970)

    Wynshaw-Boris, A; Rosenfeld, MG (2002). "Identification of a Wnt/Dvl/β-Catenin → Pitx2 Pathway Mediating Cell-Type-Specific Proliferation during Development".

    Baek Sung-hee

    Baek_Sung-hee

  • PDLIM1
  • Protein-coding gene in the species Homo sapiens

    Wynshaw-Boris A, Rosenfeld MG (2003). "Identification of a Wnt/Dvl/beta-Catenin --> Pitx2 pathway mediating cell-type-specific proliferation during development".

    PDLIM1

    PDLIM1

    PDLIM1

  • Cornea plana 2
  • Medical condition

    not Associated with Pathogenic Mutations inDCN, DSPG3, FOXC1, KERA, LUM,orPITX2". Ophthalmic Genetics. 28 (2). Informa UK Limited: 57–67. doi:10.1080/13816810701351321

    Cornea plana 2

    Cornea plana 2

    Cornea_plana_2

  • PITX3
  • Protein-coding gene

    v t e PDB gallery 1yz8: Solution structure of the k50 class homeodomain pitx2 bound to dna and implications for mutations that cause rieger syndrome

    PITX3

    PITX3

    PITX3

  • Cornea plana 1
  • Medical condition

    not Associated with Pathogenic Mutations inDCN, DSPG3, FOXC1, KERA, LUM,orPITX2". Ophthalmic Genetics. 28 (2). Informa UK Limited: 57–67. doi:10.1080/13816810701351321

    Cornea plana 1

    Cornea plana 1

    Cornea_plana_1

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Online names & meanings

  • Tomeo
  • Boy/Male

    Japanese

    Tomeo

    Cautious man.

  • Muhib
  • Boy/Male

    Indian

    Muhib

    Noble, Respected

  • Zahab
  • Girl/Female

    Arabic, Muslim

    Zahab

    Gold; Wealthy

  • Rizwana
  • Girl/Female

    Arabic, Muslim

    Rizwana

    Beautiful; Guardian of Heaven; Angel; Guard of Paradise; Bringer of Good News

  • Amrit
  • Girl/Female

    Gujarati, Hindu, Indian, Punjabi, Sanskrit, Sikh

    Amrit

    God's Nectar

  • Brijdev
  • Boy/Male

    Hindu, Indian, Punjabi, Sikh

    Brijdev

    Ocean

  • Lodeep
  • Boy/Male

    Indian

    Lodeep

    In Light

  • Eiman
  • Girl/Female

    Muslim/Islamic

    Eiman

    Faith

  • Edney
  • Surname or Lastname

    English

    Edney

    English : from a medieval personal name (of which the Latin form was Idonea, feminine Idonia) of unknown origin.

  • Jonina
  • Girl/Female

    Israeli

    Jonina

    Little dove.

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PITX2

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