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13 Possible Causes for Plastin 1

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  • Osteoporosis

    PLS3 is located on the X chromosome and encodes the actin-binding protein plastin 3.[ncbi.nlm.nih.gov] Here we describe skeletal findings in 4 boys from 2 families with mutations in PLS3 (c.994_995delGA; p.Asp332* in family 1; c.1433T   C; p.Leu478Pro in family 2).[ncbi.nlm.nih.gov]

  • Autosomal Dominant Nonsyndromic Auditory Neuropathy

    1 8 103,557,361 103,659,625 RGD:8547669 G Pls3 plastin 3 X 119,030,311 119,124,268 RGD:8547669 G Ptprq protein tyrosine phosphatase, receptor type, Q 7 49,763,657 50,034,932[rgd.mcw.edu] 63,803,311 63,819,614 RGD:8547667 G Myo3a myosin IIIA 17 88,952,635 89,167,538 RGD:8547667 G Myo6 myosin VI 8 87,583,649 87,731,271 RGD:8547669 RGD:8547672 G Myo7a myosin VIIA 1[rgd.mcw.edu] 163,071,545 RGD:8547667 RGD:8547671 G Otof otoferlin 6 27,328,343 27,424,864 RGD:8547672 G Pcdh15 protocadherin related 15 20 14,952,213 15,334,745 RGD:8547667 RGD:8547671 G Pls1 plastin[rgd.mcw.edu]

  • X-Linked Osteoporosis with Fractures

    – 630 Plastin-3 Add BLAST 630 Amino acid modifications Feature key Position(s) Description Actions Graphical view Length Modified residue i 268 Phosphoserine 1 Modified residue[uniprot.org] Methods Families Figure 1. Figure 1. Pedigrees of Families 1 through 5 with Mutations in the Gene for Plastin 3 ( PLS3 ).[nejm.org] Image: PD 1. Pathogenic variants of the plastin 3 ( PLS3 ) gene were identified in five families with X-linked osteoporosis and osteoporotic fractures. 2.[2minutemedicine.com]

  • Abdominal Muscle Strain

    […] at the Medical University of Vienna "Anatomy diagram: 25466.180-1" .[en.wikipedia.org] Anatomy photo:35:10-0100 at the SUNY Downstate Medical Center – "Anterior Abdominal Wall: The Rectus Abdominis Muscle" Cross section image: pembody/body12a —Plastination Laboratory[en.wikipedia.org]

  • Optic Atrophy-Intellectual Disability Syndrome

    PLS1 plastin 1 PLSCR2 phospholipid scramblase 2 PLSCR5 phospholipid scramblase family, member 5 PMPCA peptidase (mitochondrial processing) alpha POFUT1 protein O-fucosyltransferase[amp.pharm.mssm.edu] 2 PLEKHG6 pleckstrin homology domain containing, family G (with RhoGef domain) member 6 PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 PLP1 proteolipid protein 1[amp.pharm.mssm.edu]

  • Areca Catechu

    […] cytosolic protein 1 (L-plastin) C00002057 3949 LDLR, FH, FHC, LDLCQ2 low density lipoprotein receptor C00002057 3981 LIG4 ligase IV, DNA, ATP-dependent (EC:6.5.1.1) C00002057[genome.jp] C00002057 3932 LCK, LSK, YT16, p56lck, pp58lck lymphocyte-specific protein tyrosine kinase (EC:2.7.10.2) C00002057 3936 LCP1, CP64, L-PLASTIN, LC64P, LPL, PLS2 lymphocyte[genome.jp] TIEG2, Tieg3 Kruppel-like factor 11 C00002057 58508 KMT2C, HALR, MLL3 lysine (K)-specific methyltransferase 2C (EC:2.1.1.43) C00002057 3912 LAMB1, CLM, LIS5 laminin, beta 1[genome.jp]

  • Disorder of Lipid Metabolism

    (L-plastin) 0.634147 EHMT1 euchromatic histone-lysine N-methyltransferase 1 0.631872 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 0.629714 NCR3LG1[amp.pharm.mssm.edu] […] soluble, alpha 2 0.635554 IQCJ IQ motif containing J 0.635081 ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 0.634612 LCP1 lymphocyte cytosolic protein 1[amp.pharm.mssm.edu] […] atlastin GTPase 1 0.653298 ACSS1 acyl-CoA synthetase short-chain family member 1 0.647686 FLJ39080 0.638972 TMEM241 transmembrane protein 241 0.638262 GUCY1A2 guanylate cyclase 1,[amp.pharm.mssm.edu]

  • Microcephalic Primordial Dwarfism Type Alazami

    PINX1 PIN2/TERF1 interacting, telomerase inhibitor 1 PKP2 plakophilin 2 PKP3 plakophilin 3 PLEC plectin PLS3 plastin 3 POLR2A polymerase (RNA) II (DNA directed) polypeptide[amp.pharm.mssm.edu] […] transcription-activation domain) protein 1 PDCD2L programmed cell death 2-like PEX5 peroxisomal biogenesis factor 5 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1[amp.pharm.mssm.edu] A, 220kDa POLR2G polymerase (RNA) II (DNA directed) polypeptide G POP1 processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) PPAN peter pan homolog (Drosophila[amp.pharm.mssm.edu]

  • Congenital Trigeminal Anesthesia

    The location of the lumbar dorsal rami – a plastination cross section study [ULTIM AUTOR] Mater Plast2015, 52(1):75-78 ISI 6.[umft.ro]

  • Ovarian Vein Syndrome

    Division of Plastination Institute of Anatomy Köln Köln Germany 3. Gynecological Day Surgery Center Bonn Germany[link.springer.com] Notermans 2 Jost Brökelmann 3 1. First University Department of General Surgery “Victor Babeş,” University of Medicine and Pharmacy Timişoara Romania 2.[link.springer.com]

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