| Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort. | Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort.
Sakuma N, Nishio SY, Goto SI, Honkura Y, Oda K, Takeda H, Kobayashi M, Kumakawa K, Iwasaki S, Takahashi M, Ito T, Arai Y, Isono Y, Obara N, Matsunobu T, Okubo K, Usami SI., Free PMC Article | 06/30/2024 |
| Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient. | Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient.
Qin Y, Ma Y, Zeng Z, Zhong Z, Qi Y, Liu Y., Free PMC Article | 06/9/2023 |
| Protein Tyrosine Phosphatase Receptor-type Q: Structure, Activity, and Implications in Human Disease. | Protein Tyrosine Phosphatase Receptor-type Q: Structure, Activity, and Implications in Human Disease.
Zhang W, Tang Z, Fan S, Yao D, Zhang Z, Guan C, Deng W, Ying Y. | 10/15/2022 |
| PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India. | PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.
Vanniya S P, Chandru J, Jeffrey JM, Rabinowitz T, Brownstein Z, Krishnamoorthy M, Avraham KB, Cheng L, Shomron N, Srisailapathy CRS. | 01/29/2022 |
| Protein tyrosine phosphatase receptor type Q in cerebrospinal fluid reflects ependymal cell dysfunction and is a potential biomarker for adult chronic hydrocephalus. | Protein tyrosine phosphatase receptor type Q in cerebrospinal fluid reflects ependymal cell dysfunction and is a potential biomarker for adult chronic hydrocephalus.
Nakajima M, Rauramaa T, Mäkinen PM, Hiltunen M, Herukka SK, Kokki M, Musialowicz T, Jyrkkänen HK, Danner N, Junkkari A, Koivisto AM, Jääskeläinen JE, Miyajima M, Ogino I, Furuta A, Akiba C, Kawamura K, Kamohara C, Sugano H, Tange Y, Karagiozov K, Leinonen V, Arai H., Free PMC Article | 08/28/2021 |
| First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene. | First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.
Oziębło D, Sarosiak A, Leja ML, Budde BS, Tacikowska G, Di Donato N, Bolz HJ, Nürnberg P, Skarżyński H, Ołdak M., Free PMC Article | 09/26/2020 |
| The studies findings suggest that the novel compound heterozygous PTPRQ mutations, c.4472C>T (p.T1491M) and c.1973T>C (p.V658A), are the cause of congenital Sensorineural Hearing Loss in a Chinese family. | Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family.
Wu X, Wang S, Chen S, Wen YY, Liu B, Xie W, Li D, Liu L, Huang X, Sun Y, Kong WJ., Free PMC Article | 12/1/2018 |
| We identified a heterozygous nonsense mutation, c.6881G>A (p.Trp2294*), in the last coding exon of PTPRQ. PTPRQ has been linked with recessive (DFNB84A), but not dominant deafness. PTPRQTrp2294* protein would lack only six terminal residues and could exert a dominant-negative effect | A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
Eisenberger T, Di Donato N, Decker C, Delle Vedove A, Neuhaus C, Nürnberg G, Toliat M, Nürnberg P, Mürbe D, Bolz HJ., Free PMC Article | 10/20/2018 |
| PTPRQ may be a useful biomarker for discriminating between patients with Idiopathic normal pressure hydrocephalus and Alzheimer's disease. | PTPRQ as a potential biomarker for idiopathic normal pressure hydrocephalus.
Nagata Y, Bundo M, Sugiura S, Kamita M, Ono M, Hattori K, Yoshida S, Goto YI, Urakami K, Niida S., Free PMC Article | 04/21/2018 |
| Confirm contribution of PTPRZ1, and especially PTPRQ, in CRC carcinogenesis and demonstrated that PTPRQ expression is correlated with KRAS mutation. | High PTPRQ Expression and Its Relationship to Expression of PTPRZ1 and the Presence of KRAS Mutations in Colorectal Cancer Tissues.
Laczmanska I, Karpinski P, Gil J, Laczmanski L, Bebenek M, Sasiadek MM. | 07/16/2016 |
| two novel compound heterozygous missense mutations, c. 3125 A>G p.D1042G and c.5981 A>G p.E1994G in the PTPRQ gene, were identified as the cause of recessively inherited sensorineural hearing loss in family 1572. | Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.
Gao X, Su Y, Chen YL, Han MY, Yuan YY, Xu JC, Xin F, Zhang MG, Huang SS, Wang GJ, Kang DY, Guan LP, Zhang JG, Dai P., Free PMC Article | 04/9/2016 |
| novel c.16_17insT (L8fsX18) and c.2714delA (E909fsX922)mutations in PTPRQ presented here further confirms the essential role of PTPRQ in hearing development and auditory function | Identification of a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment.
Sang Q, Mei H, Kuermanhan A, Feng R, Guo L, Qu R, Xu Y, Li H, Jin L, He L, Wang L. | 10/3/2015 |
| Identification of four causative mutations in the PTPRQ gene as a cause of congenital sensorineural hearing loss in a Japanese population. | Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss.
Sakuma N, Moteki H, Azaiez H, Booth KT, Takahashi M, Arai Y, Shearer AE, Sloan CM, Nishio SY, Kolbe DL, Iwasaki S, Oridate N, Smith RJ, Usami S., Free PMC Article | 08/22/2015 |
| PTPRQ crystal structure shows the basis for the dephosphorylating activity of PTPRQ towards phosphatidylinositide substrates. | Structural basis for the dephosphorylating activity of PTPRQ towards phosphatidylinositide substrates.
Yu KR, Kim YJ, Jung SK, Ku B, Park H, Cho SY, Jung H, Chung SJ, Bae KH, Lee SC, Kim BY, Erikson RL, Ryu SE, Kim SJ. | 12/21/2013 |
| Identification of the DFNB84 gene represents the first identification of PTPRQ mutation in human hearing loss. | Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84.
Shahin H, Rahil M, Abu Rayan A, Avraham KB, King MC, Kanaan M, Walsh T. | 01/1/2011 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. | Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.
Schraders M, Oostrik J, Huygen PL, Strom TM, van Wijk E, Kunst HP, Hoefsloot LH, Cremers CW, Admiraal RJ, Kremer H., Free PMC Article | 05/3/2010 |
| Overexpression of PTP-RQ consistently led to reduced differentiation of mesenchymal stem cells into adipocytes via decreasing the phosphatidyl inositol phosphate level in cells, and consequently downregulating Akt/PKB phosphorylation. | Involvement of PTP-RQ in differentiation during adipogenesis of human mesenchymal stem cells.
Jung H, Kim WK, Kim DH, Cho YS, Kim SJ, Park SG, Park BC, Lim HM, Bae KH, Lee SC. | 01/21/2010 |