Literature DB >> 25988854

Novel and recurrent mutations in WISP3 and an atypical phenotype.

Gandham SriLakshmi Bhavani1, Hitesh Shah2, Ashwin B Dalal3, Anju Shukla1, Sumita Danda4, Shagun Aggarwal5, Shubha R Phadke6, Neerja Gupta7, Madhulika Kabra7, Kalpana Gowrishankar8, Anju Gupta9, Meenakshi Bhat10, Ratna D Puri11, Sunita Bijarnia-Mahay11, Sheela Nampoothiri12, Kavitha M Mohanasundaram13, S Rajeswari13, Akhil M Kulkarni14, Muralidhar L Kulkarni15, Prajnya Ranganath3,5, A Radha Ramadevi16, Sankar V Hariharan17, Katta Mohan Girisha1.   

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Year:  2015        PMID： 25988854     DOI： 10.1002/ajmg.a.37164

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  9 in total

Review 1.  Progressive pseudorheumatoid dysplasia: a rare childhood disease.

Authors:  Sofia Torreggiani; Marta Torcoletti; Belinda Campos-Xavier; Francesco Baldo; Carlo Agostoni; Andrea Superti-Furga; Giovanni Filocamo
Journal:  Rheumatol Int       Date:  2018-10-16       Impact factor: 2.631

2.  A retrospective study of nine patients with progressive pseudorheumatoid dysplasia: to explore early diagnosis and further treatment.

Authors:  Lei Yin; Youying Mao; Yunfang Zhou; Yongnian Shen; Huijin Chen; Wei Zhou; Yanliang Jin; Hua Huang; Yongguo Yu; Jian Wang
Journal:  Clin Rheumatol       Date:  2021-10-21       Impact factor: 2.980

3.  CCN family of proteins: critical modulators of the tumor cell microenvironment.

Authors:  Herman Yeger; Bernard Perbal
Journal:  J Cell Commun Signal       Date:  2016-08-12       Impact factor: 5.782

4.  WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198.

Authors:  V Madhuri; M Santhanam; K Rajagopal; L K Sugumar; V Balaji
Journal:  Bone Joint Res       Date:  2016-07       Impact factor: 5.853

5.  WISP3 mutation associated with pseudorheumatoid dysplasia.

Authors:  M Reza Sailani; James Chappell; Inlora Jingga; Anil Narasimha; Amin Zia; Janet Linnea Lynch; Safoura Mazrouei; Jonathan A Bernstein; Omid Aryani; Michael P Snyder
Journal:  Cold Spring Harb Mol Case Stud       Date:  2018-02-01

Review 6.  A review of skeletal dysplasia research in India.

Authors:  A Uttarilli; H Shah; A Shukla; K M Girisha
Journal:  J Postgrad Med       Date:  2018 Apr-Jun       Impact factor: 1.476

7.  The promise of discovering population-specific disease-associated genes in South Asia.

Authors:  Nathan Nakatsuka; Priya Moorjani; Niraj Rai; Biswanath Sarkar; Arti Tandon; Nick Patterson; Gandham SriLakshmi Bhavani; Katta Mohan Girisha; Mohammed S Mustak; Sudha Srinivasan; Amit Kaushik; Saadi Abdul Vahab; Sujatha M Jagadeesh; Kapaettu Satyamoorthy; Lalji Singh; David Reich; Kumarasamy Thangaraj
Journal:  Nat Genet       Date:  2017-07-17       Impact factor: 38.330

8.  CCN6 mutation detection in Chinese patients with progressive pseudo-rheumatoid dysplasia and identification of four novel mutations.

Authors:  Yingjie Wang; Ke Xiao; Yuemei Yang; Zhihong Wu; Jin Jin; Guixing Qiu; Xisheng Weng; Xiuli Zhao
Journal:  Mol Genet Genomic Med       Date:  2020-04-29       Impact factor: 2.183

9.  Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature.

Authors:  Ben Pode-Shakked; Asaf Vivante; Ortal Barel; Shai Padeh; Dina Marek-Yagel; Alvit Veber; Shachar Abudi; Aviva Eliyahu; Irit Tirosh; Shiri Shpilman; Shirlee Shril; Friedhelm Hildebrandt; Mordechai Shohat; Yair Anikster
Journal:  BMC Med Genet       Date:  2019-03-29       Impact factor: 2.103
  9 in total

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