SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7

S Narumi, N Amano, T Ishii, N Katsumata, K Muroya… - Nature …, 2016 - nature.com
Adrenal hypoplasia is a rare, life-threatening congenital disorder. Here we define a new
form of syndromic adrenal hypoplasia, which we propose to term MIRAGE (myelodysplasia …

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

ZA Jenkins, M van Kogelenberg, T Morgan, A Jeffs… - Nature …, 2009 - nature.com
Abnormalities in WNT signaling are implicated in a broad range of developmental
anomalies and also in tumorigenesis. Here we demonstrate that germline mutations in WTX …

Destabilized adhesion in the gastric proliferative zone and c-Src kinase activation mark the development of early diffuse gastric cancer

B Humar, R Fukuzawa, V Blair, A Dunbier, H More… - Cancer research, 2007 - AACR
The initial development of diffuse gastric cancer (DGC) is poorly understood. The study of E-
cadherin (CDH1) germ line mutation carriers predisposed to DGC provides a rare …

Selective ablation of tumorigenic cells following human induced pluripotent stem cell-derived neural stem/progenitor cell transplantation in spinal cord injury

K Kojima, H Miyoshi, N Nagoshi… - Stem Cells …, 2019 - academic.oup.com
Tumorigenesis is an important problem that needs to be addressed in the field of human
stem/progenitor cell transplantation for the treatment of subacute spinal cord injury (SCI) …

Epigenetic differences between Wilms' tumours in white and east-Asian children

R Fukuzawa, NE Breslow, IM Morison, P Dwyer… - The Lancet, 2004 - thelancet.com
Background Variations in the international incidence of Wilms' tumour might be due to
genetic factors. The maternal insulin-like growth factor 2 gene (IGF2) is imprinted in normal …

Molecular pathology and epidemiology of nephrogenic rests and Wilms tumors

R Fukuzawa, AE Reeve - Journal of pediatric hematology …, 2007 - journals.lww.com
Perilobar (PLNR) and intralobar nephrogenic rests (ILNR) are distinct precursor lesions of
Wilms tumors that have different structural, clinical, genetic, and epidemiologic features …

[HTML][HTML] Germline mutations and somatic inactivation of TRIM28 in Wilms tumour

BJ Halliday, R Fukuzawa, DM Markie, RG Grundy… - PLoS …, 2018 - journals.plos.org
Wilms tumour is a childhood tumour that arises as a consequence of somatic and rare
germline mutations, the characterisation of which has refined our understanding of …

Sequential WT1 and CTNNB1 mutations and alterations of β-catenin localisation in intralobar nephrogenic rests and associated Wilms tumours: two case studies

R Fukuzawa, RW Heathcott, HE More… - Journal of clinical …, 2007 - jcp.bmj.com
Background: Intralobar nephrogenic rests (ILNRs) are precursor lesions for Wilms tumours
and are associated with WT1 gene mutations. ILNR-associated Wilms tumours have a co …

Digynic triploid infant surviving for 46 days

T Hasegawa, N Harada, K Ikeda, T Ishii… - American journal of …, 1999 - Wiley Online Library
We report on a triploid infant who survived for 46 days. She had severe intrauterine growth
retardation, relative macrocephaly, and a small, noncystic placenta, which are …

[HTML][HTML] Pathological classification of human iPSC-derived neural stem/progenitor cells towards safety assessment of transplantation therapy for CNS diseases

K Sugai, R Fukuzawa, T Shofuda, H Fukusumi… - Molecular brain, 2016 - Springer
The risk of tumorigenicity is a hurdle for regenerative medicine using induced pluripotent
stem cells (iPSCs). Although teratoma formation is readily distinguishable, the malignant …