Mutations Involving SOX8 Are Associated with a Spectrum of Human Reproductive Disorders

被引：0
|
作者：
Bashamboo, Anu [1 ]
Portnoi, Marie France [2 ]
Dumargne, Marie-Charlotte [1 ]
Bignon-Topalovic, Joelle [1 ]
Rouba, Hassan [3 ]
Rojo, Sandra [1 ]
Ravel, Celia [4 ]
Persani, Luca [5 ]
Achermann, John C. [6 ]
Christin-Maitre, Sophie [7 ]
Siffroi, Jean-Pierre [2 ]
McElreavey, Ken [1 ]
机构：
[1] Inst Pasteur, Paris, France
[2] Trousseau Hosp, Paris, France
[3] Inst Pasteur Morocco, Casablanca, Morocco
[4] CHU Rennes, Rennes, France
[5] Ist Auxol Italiano, Milan, Italy
[6] UCL Inst Child Hlth, London, England
[7] St Antoine Hosp, Paris, France
来源：
ENDOCRINE REVIEWS | 2014年 / 35卷 / 03期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
LB-OR01-2
引用
收藏
页数：2
相关论文
共 50 条
  • [1] Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies
    Portnoi, Marie-France
    Dumargne, Marie-Charlotte
    Rojo, Sandra
    Witchel, Selma F.
    Duncan, Andrew J.
    Eozenou, Caroline
    Bignon-Topalovic, Joelle
    Yatsenko, Svetlana A.
    Rajkovic, Aleksandar
    Reyes-Mugica, Miguel
    Almstrup, Kristian
    Fusee, Leila
    Srivastava, Yogesh
    Chantot-Bastaraud, Sandra
    Hyon, Capucine
    Louis-Sylvestre, Christine
    Validire, Pierre
    Pichard, Caroline de Malleray
    Ravel, Celia
    Christin-Maitre, Sophie
    Brauner, Raja
    Rossetti, Raffaella
    Persani, Luca
    Charreau, Eduardo H.
    Dain, Liliana
    Chiauzzi, Violeta A.
    Mazen, Inas
    Rouba, Hassan
    Schluth-Bolard, Caroline
    MacGowan, Stuart
    McLean, W. H. Irwin
    Patin, Etienne
    Rajpert-De Meyts, Ewa
    Jauch, Ralf
    Achermann, John C.
    Siffroi, Jean-Pierre
    McElreavey, Ken
    Bashamboo, Anu
    HUMAN MOLECULAR GENETICS, 2018, 27 (07) : 1228 - 1240
  • [2] The deletion of SOX8 is not associated with ATR-16 in an HbH family from Brazil
    Bezerra, M. A. C. B.
    Araujo, A. S.
    Phylipsen, M.
    Balak, D.
    Kimura, E. M.
    Oliveira, D. M.
    Costa, F. F.
    Sonati, M. F.
    Harteveld, C. L.
    BRITISH JOURNAL OF HAEMATOLOGY, 2008, 142 (02) : 324 - 326
  • [3] Brief Report: Importance of SOX8 for In Vitro Chondrogenic Differentiation of Human Mesenchymal Stromal Cells
    Herlofsen, Sarah R.
    Hoiby, Torill
    Cacchiarelli, Davide
    Zhang, Xiaolan
    Mikkelsen, Tarjei S.
    Brinchmann, Jan E.
    STEM CELLS, 2014, 32 (06) : 1629 - 1635
  • [4] Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction
    Warman-Chardon, Jodi
    Hartley, Taila
    Marshall, Aren Elizabeth
    McBride, Arran
    Couse, Madeline
    Macdonald, William
    Mann, Mellissa R. W.
    Bourque, Pierre R.
    Breiner, Ari
    Lochmuller, Hanns
    Woulfe, John
    Sampaio, Marcos Loreto
    Melkus, Gerd
    Brais, Bernard
    Dyment, David A.
    Boycott, Kym M.
    Kernohan, Kristin
    NEUROLOGY-GENETICS, 2023, 9 (05)
  • [5] The spectrum of mutations associated with hereditary fibrinogen disorders in the UK
    Hill, M.
    Seth, R.
    Gordon, B.
    Patel, N.
    Nicholson, E.
    Campbell, T. R.
    Dolan, G.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2013, 11 : 848 - 848
  • [6] Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders
    Sun, Bang
    Stamou, Maria, I
    Stockman, Sara L.
    Campbell, Mark B.
    Plummer, Lacey
    Salnikov, Kathryn B.
    Kotan, Leman Damla
    Topaloglu, A. Kemal
    Hisama, Fuki M.
    Davis, Erica E.
    Seminara, Stephanie B.
    Balasubramanian, Ravikumar
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2024, 110 (04): : 1044 - 1052
  • [7] FAMILIAL RATES OF PSYCHIATRIC DISORDERS IN CHILDREN WITH AUTISM SPECTRUM DISORDERS ASSOCIATED WITH GENETIC MUTATIONS
    Luhrs, K.
    Bernier, R.
    Hudac, C.
    JOURNAL OF INVESTIGATIVE MEDICINE, 2015, 63 (01) : 110 - 111
  • [8] Expanding the spectrum of neurological disorders associated with PRRT2 mutations
    Heather Wood
    Nature Reviews Neurology, 2012, 8 (12) : 657 - 657
  • [9] Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations
    Sivakumar, K
    Kyriakides, T
    Puls, I
    Nicholson, GA
    Funalot, B
    Antonellis, A
    Sambuughin, N
    Christodoulou, K
    Beggs, JL
    Zamba-Papanicolaou, E
    Ionasescu, V
    Dalakas, MC
    Green, ED
    Fischbeck, KH
    Goldfarb, LG
    BRAIN, 2005, 128 : 2304 - 2314
  • [10] Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development
    Rjiba, Khouloud
    Mougou-Zerelli, Soumaya
    Hamida, Imen hadj
    Saad, Ghada
    Khadija, Bochra
    Jelloul, Afef
    Slimani, Wafa
    Hasni, Yosra
    Dimassi, Sarra
    Ben Khelifa, Hela
    Sallem, Amira
    Kammoun, Molka
    Abdallah, Hamza Hadj
    Gribaa, Moez
    Bignon-Topalovic, Joelle
    Chelly, Sami
    Khairi, Hedi
    Bibi, Mohamed
    Kacem, Maha
    Saad, Ali
    Bashamboo, Anu
    McElreavey, Kenneth
    REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY, 2023, 21 (01)
12345