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1,632 Possible Causes for (Oculocutaneous, Albinism, Allele, IA), Tyrosinase, wt

  • Oculocutaneous Albinism

    Previous studies have suggested that the G47D mutation leads patients to develop Oculocutaneous albinism (OCA) type IA.[ncbi.nlm.nih.gov] The p.D160H allele accounts for 55.6% of the mutational SLC45A2 alleles in Chinese OCA4 patients.[ncbi.nlm.nih.gov] , oculocutaneous OCA ALBINISM, OCULOCUTANEOUS, TYPE IA ALBINISM, OCULOCUTANEOUS, TYPE IB ALBINISM, OCULOCUTANEOUS, TYPE II ALBINISM, OCULOCUTANEOUS, TYPE III ALBINISM, OCULOCUTANEOUS[ghr.nlm.nih.gov] We measured NCKX-mediated Ca(2 ) transport activity of WT and mutant NCKX4 proteins expressed in HEK293 cells.[ncbi.nlm.nih.gov] Abstract We detected a nonsense mutation in the tyrosinase gene of two Afghan sibs with classical tyrosinase negative (type IA) oculocutaneous albinism.[ncbi.nlm.nih.gov] […] of tyrosinase or in other regions of the tyrosinase gene.[ncbi.nlm.nih.gov]

  • Oculocutaneous Albinism Type 4

    Nervul oculomotor poate suplini func\ia nervului abducens prin un ram al diviziunii sale inferioare.[yumpu.com] @article{Warren1981AllelismIH, title {Allelism in human oculocutaneous albinism.}, author {Stephen T Warren}, journal {American journal of human genetics}, year {1981}, volume[semanticscholar.org] , and Prader-Willi syndrome plus albinism.[ncbi.nlm.nih.gov] Mutational search was performed for the SLC45A2 gene responsible for oculocutaneous albinism type 4 (OCA4).[ncbi.nlm.nih.gov] TABLE 1 Distribution of the Y277C and L347M mutations in chicken SLC45A2 across populations Y277C L347M Breed (origin) S allele A/A, A/W (wt) G/– ( S*S _ WL ) Total C/C, C[ncbi.nlm.nih.gov] […] for tyrosinase trafficking.[doi.org]

  • Albinism

    Previous studies have suggested that the G47D mutation leads patients to develop Oculocutaneous albinism (OCA) type IA.[ncbi.nlm.nih.gov] Oca2(p) allele has never been reported.[ncbi.nlm.nih.gov] An oculocutaneous macromelanosomal disorder.[ncbi.nlm.nih.gov] Vision problems are also associated with albinism. Albinism can affect people from all ethnic background. It is genetic and can’t be caused by outside influences.[symptoma.com] We measured NCKX-mediated Ca(2 ) transport activity of WT and mutant NCKX4 proteins expressed in HEK293 cells.[ncbi.nlm.nih.gov] CSpritz analysis depicted that 23.25% residues actively participate in the instability of tyrosinase.[ncbi.nlm.nih.gov]

  • Oculocutaneous Albinism Type 7

    Special to the Record-Herald Published 5:02 PM EDT Jul 28, 2017 INDIANOLA, Ia. — Everett Noethe can check off going viral from his summer bucket list.[desmoinesregister.com] […] the normal allele, and the father is heterozygous for the A481T mutation allele and the normal allele, the maternally inherited P allele must be deleted in the patient.[jmg.bmj.com] Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes.[ncbi.nlm.nih.gov] Transcobalamin C1IN : C1-Esterase-Inhibitor C11orf30: Protein EMSY [4] CGRP : Calcitonin Gene-Related Peptide PAX6: Pax-Gen 6 KCNJ1 : Renal Outer Medullary Potassium channel WT[chemie-schule.de] Deletions of the tyrosinase gene associated with OCA1. Polymorphisms of the tyrosinase gene.[ifpcs.org] However, 10 of the OCA1 Wookiees had mutations on both alleles.[scq.ubc.ca]

  • Oculocutaneous Albinism Type 1

    Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.[ifpcs.org] RESULTS: Among the 24 (58.5%) patients with OCA1, 21 different TYR mutations were identified, including three previously unidentified alleles (PUAs): one frameshift mutation[ncbi.nlm.nih.gov] Disease definition Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous[orpha.net] Results Among the 24 (58.5%) patients with OCA1, 21 different TYR mutations were identified, including three previously unidentified alleles (PUAs): one frameshift mutation[link.springer.com] @article{Warren1981AllelismIH, title {Allelism in human oculocutaneous albinism.}, author {Stephen T Warren}, journal {American journal of human genetics}, year {1981}, volume[semanticscholar.org] Abstract Oculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase gene, which lead to partial or complete loss of activity of the corresponding enzyme[ncbi.nlm.nih.gov]

    Missing: wt
  • Oculocutaneous Albinism, Type 2

    Ocular, With Sensorineural Deafness Waardenburg Syndrome, Type 2, with Ocular Albinism, Autosomal Recessive WS2-OA 103470 Genetic Test Registry Albinism, Oculocutaneous, Type Ia[ukgtn.nhs.uk] In addition, the deletion allele was widespread but less common among OCA2 Cameroonians and accounted for 65% of the mutant alleles.[ncbi.nlm.nih.gov] Resources - Oculocutaneous albinism type 2 Not supplied.[checkorphan.org] […] that albinism in this population is OCA2.[ncbi.nlm.nih.gov] Tyrosinase was targeted to the late endosomal and lysosomal compartments after treatment of the cells with compounds that correct the tyrosinase mistrafficking in albino melanocytes[ncbi.nlm.nih.gov] Albinism, Oculocutaneous, Type IA; OCA1A. Entry No: 203100. Last Edited Oct. 8, 2013. Available at: . Accessed Aug. 10, 2015. Online Mendelian Inheritance in Man (OMIM).[rarediseases.org]

    Missing: wt
  • Oculocutaneous Albinism Type 3

    Albinism, Oculocutaneous, Type IA; OCA1A. Entry No: 203100. Last Edited Oct. 8, 2013. Available at: . Accessed Aug. 10, 2015. Online Mendelian Inheritance in Man (OMIM).[rarediseases.org] A mutant allele with a missense mutation was analyzed using melanocyte cultures (b cells) established from a mouse model of OCA3.[ncbi.nlm.nih.gov] Mutations in the mouse Tyrp1 gene are associated with brown pelage, and in the human TYRP1 gene with oculocutaneous albinism type 3 (OCA3).[ncbi.nlm.nih.gov] Nucleotide sequence of the cDNA encoding human tyrosinase-related protein.[ifpcs.org] Albinism, brown oculocutaneous 203200 SLC45A2 slc45a2 Albinism, oculocutaneous, type IV 606574 TYR tyr Albinism, oculocutaneous, type IB 606952 Albinism, oculocutaneous, type IA[zfin.org] […] to treat oculocutaneous albinism type 3, information about the causes, diagnosis, and related oculocutaneous albinism type 3 diseases.[signssymptoms.org]

    Missing: wt
  • Oculocutaneous Albinism Type 6

    Nervul oculomotor poate suplini func\ia nervului abducens prin un ram al diviziunii sale inferioare.[yumpu.com] […] the normal allele, and the father is heterozygous for the A481T mutation allele and the normal allele, the maternally inherited P allele must be deleted in the patient.[jmg.bmj.com] albinism.[nhs.uk] OCA, Oculocutaneous albinism, Brown oculocutaneous albinism, Temperature-sensitive oculocutaneous albinism, Albinism oculocutaneous-, tyrosinase-positive oculocutaneous albinism[checkorphan.org] P14679 KEY derm, eye CLA coding, basic LOC 11 q21 MIM MIM: 203100 EZN ENZYME: 1.14.18.1 Смотрите также: Gene: [09p23/TYRP1] 5,6-dihydroxyindole-2-carboxylic acid oxidase; tyrosinase-related[medicalcollege.ru] ABSTRACT Tyrosinase is an enzyme in the melanin biosynthetic pathway.[scq.ubc.ca]

    Missing: wt
  • Oculocutaneous Albinism Type 5

    The ocular features are similar in types IA and IB. The iris may darken with age in type IB (606952).[disorders.eyes.arizona.edu] The plus signs ( ) show normal alleles. Figure 1 The pedigree of the Japanese family with autosomal dominant OCA4.[iovs.arvojournals.org] Oculocutaneous albinism type 1, 2, 3 and 4 (Oculocutaneous albinism types 1, 2, 3 and 4) - Genes TYR, OCA2, TYRP1, SLC45A2 and MC1R Oculocutaneous albinism (OCA: Cutaneous[ivami.com] Giebel LB, Strunk KM, Spritz RA (1991) Organization And Nucleotide Sequences Of The Human Tyrosinase Gene And A Truncated Tyrosinase-Related Segment.[journals.plos.org] […] the normal allele, and the father is heterozygous for the A481T mutation allele and the normal allele, the maternally inherited P allele must be deleted in the patient.[jmg.bmj.com] Nehru Medical College, Aligarh Muslim University (AMU), Aligarh - 202 001, UP India Source of Support: None, Conflict of Interest: None Abstract A middle-aged man with type IA[e-ijd.org]

    Missing: wt
  • Hermanski-Pudlak Syndrome

    Kemungkinan besar anak anda harus menggunakan lensa khusus, untuk memperbaiki penglihatan mereka, dan ia harus melakukan pemeriksaan tahunan di dokter mata.[dokterdigital.com] […] of Genetics and Cytogenetics in Oncology and Haematology: HPS1 No data available for Genatlas for HPS1 Gene A comprehensive analysis reveals mutational spectra and common alleles[genecards.org] His mild oculocutaneous hypopigmentation was subtle. In the following 27 years, he did not develop severe bleeding nor pulmonary or gastrointestinal complications.[ncbi.nlm.nih.gov] KEYWORDS: Hermansky-Pudlak syndrome; lysosome-related organelles disorder; oculocutaneous albinism[ncbi.nlm.nih.gov] Electron micrographs of transverse sections of wild-type (WT) and fad outer retina.[iovs.arvojournals.org] Cellular studies revealed that the melanogenic proteins tyrosinase and tyrosinase related protein 1 failed to be efficiently delivered to the melanosomes of HPS-6 patients[ncbi.nlm.nih.gov]

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