A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly

被引：0
|
作者：
Dawood, Moez [1 ]
Akay, Gulsen [1 ]
Mitani, Tadahiro [1 ]
Fatih, Jawid M. [1 ]
Punetha, Jaya [1 ]
Punetha, Jaya [1 ]
Marafi, Dana [1 ,2 ]
Grochowski, Christopher M. [1 ]
Du, Haowei [1 ]
Jolly, Angad [1 ]
Coban-Akdemir, Zeynep [1 ,3 ]
Jhangiani, Shalini N. [1 ]
Hunter, Jill V. [1 ,4 ]
Pehlivan, Davut [1 ,4 ]
Posey, Jennifer E. [1 ]
Carvalho, Claudia M. B. [1 ,5 ]
Gibbs, Richard A. [1 ]
Lupski, James R. [1 ,4 ]
机构：
[1] Baylor Coll Med, Houston, TX 77030 USA
[2] Kuwait Univ, Safat, Kuwait
[3] Univ Texas Hlth Sci Ctr Houston, Houston, TX 77030 USA
[4] Texas Childrens Hosp, Houston, TX 77030 USA
[5] Pacific Northwest Res Inst, Seattle, WA USA
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2022年 / 30卷 / SUPPL 1期
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P09.114.C
引用
收藏
页码：296 / 297
页数：2
相关论文
共 37 条
  • [1] A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly
    Dawood, Moez
    Akay, Gulsen
    Mitani, Tadahiro
    Marafi, Dana
    Fatih, Jawid M.
    Gezdirici, Alper
    Najmabadi, Hossein
    Kahrizi, Kimia
    Punetha, Jaya
    Grochowski, Christopher M.
    Du, Haowei
    Jolly, Angad
    Li, He
    Coban-Akdemir, Zeynep
    Sedlazeck, Fritz J.
    Hunter, Jill, V
    Jhangiani, Shalini N.
    Muzny, Donna
    Pehlivan, Davut
    Posey, Jennifer E.
    Carvalho, Claudia M. B.
    Gibbs, Richard A.
    Lupski, James R.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191 (03) : 794 - 804
  • [2] PPP1R35 is a novel centrosomal protein that regulates centriole length in concert with the microcephaly protein RTTN
    Sydor, Andrew Michael
    Coyaud, Etienne
    Rovelli, Cristina
    Laurent, Estelle
    Liu, Helen
    Raught, Brian
    Mennella, Vito
    ELIFE, 2018, 7
  • [3] PPP1R35 is a novel centrosomal protein that regulates centriole length in concert with the microcephaly protein RTTN
    Sydor, A.
    Coyad, E.
    Rovelli, C.
    Laurent, E.
    Liu, H.
    Raught, B.
    Mennella, V.
    MOLECULAR BIOLOGY OF THE CELL, 2018, 29 (26) : 163 - 164
  • [4] PPP1R35 ensures centriole homeostasis by promoting centriole-to-centrosome conversion
    Fong, Chii Shyang
    Ozaki, Kanako
    Tsou, Meng-Fu Bryan
    MOLECULAR BIOLOGY OF THE CELL, 2018, 29 (23) : 2801 - 2808
  • [5] Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy
    Robinson, H. K.
    Zaklyazminskaya, E.
    Povolotskaya, I
    Surikova, Y.
    Mallin, L.
    Armstrong, C.
    Mabin, D.
    Benke, P. J.
    Chrisant, M. R.
    McDonald, M.
    Marboe, C. C.
    Agre, K. E.
    Deyle, D. R.
    McWalter, K.
    Douglas, G.
    Balashova, M. S.
    Kaimonov, V
    Shirokova, N.
    Pomerantseva, E.
    Turner, C. L.
    Ellard, S.
    CLINICAL GENETICS, 2020, 98 (04) : 331 - 340
  • [6] Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy
    Robinson, H. K.
    Zaklyazminskaya, E.
    Povolotskaya, I.
    Surikova, Y.
    Mallin, L.
    Armstrong, C.
    Chrisant, M. R.
    Benke, P. J.
    McDonald, M.
    Marboe, C. C.
    McWalter, K.
    Douglas, G.
    Agre, K.
    Deyle, D.
    Balashova, K. M.
    Kaimonov, V.
    Shirokova, N.
    Pomerantseva, E.
    Turner, C.
    Ellard, S.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 281 - 282
  • [7] Biallelic frameshift variants in CYHR1 cause severe global developmental delay
    Asif, Maria
    Khayyat, Arwa Ishaq A.
    Alawbathani, Salem
    Haasters, Judith
    Budde, Birgit
    Nuernberg, Peter
    Wagner, Matias
    Hussain, Muhammad Sajid
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 279 - 280
  • [8] Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function
    Rehman, Atteeq U.
    Najafi, Maryam
    Kambouris, Marios
    Al-Gazali, Lihadh
    Makrythanasis, Periklis
    Rad, Abolfazl
    Maroofian, Reza
    Rajab, Anna
    Stark, Zornitza
    Hunter, Jill V.
    Bakey, Zeineb
    Tokita, Mari J.
    He, Weimin
    Vetrini, Francesco
    Petersen, Andrea
    Santoni, Federico A.
    Hamamy, Hanan
    Wu, Kaman
    Al-Jasmi, Fatma
    Helmstaedter, Martin
    Arnold, Sebastian J.
    Xia, Fan
    Richmond, Christopher
    Liu, Pengfei
    Karimiani, Ehsan Ghayoor
    Madani, GholamReza Karami
    Lunke, Sebastian
    El-Shanti, Hatem
    Eng, Christine M.
    Antonarakis, Stylianos E.
    Hertecant, Jozef
    Walkiewicz, Magdalena
    Yang, Yaping
    Schmidts, Miriam
    HUMAN MUTATION, 2019, 40 (03) : 267 - 280
  • [9] Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia
    Asif, Maria
    Khayyat, Arwa Ishaq A.
    Alawbathani, Salem
    Abdullah, Uzma
    Sanner, Anne
    Georgomanolis, Theodoros
    Haasters, Judith
    Becker, Kerstin
    Budde, Birgit
    Becker, Christian
    Thiele, Holger
    Baig, Shahid M.
    Isidoro-Garcia, Maria
    Winter, Dominic
    Pogoda, Hans -Martin
    Muhammad, Sajjad
    Hammerschmidt, Matthias
    Kraft, Florian
    Kurth, Ingo
    Martin, Hilario Gomez
    Wagner, Matias
    Nuernberg, Peter
    Hussain, Muhammad Sajid
    GENETICS IN MEDICINE, 2024, 26 (07)
  • [10] Biallelic mutations in TOGARAM1 cause a novel primary ciliopathy
    Morbidoni, V.
    Agolini, E.
    Slept, K. C.
    Pannone, L.
    Zuccarello, D.
    Grosso, E.
    Gai, G.
    Salviati, L.
    Dallapiccola, B.
    Novelli, A.
    Martinelli, S.
    Trevisson, E.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 95 - 95
1234