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Gorlin syndrome (nevoid basal cell carcinoma syndrome): Update and literature review

Pediatrics international, 2014-10, Vol.56 (5), p.667-674

2014

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Confocal microscopy for intracellular co-localization of proteins

Methods in molecular biology (Clifton, N.J.), 2015-01, Vol.1278, p.515

Miyashita, Toshiyuki

2015

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Establishment of a Gorlin syndrome model from induced neural progenitor cells exhibiting constitutive GLI1 expression and high sensitivity to inhibition by smoothened (SMO)

Laboratory investigation, 2020-04, Vol.100 (4), p.657-664

2020

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MicroRNAs profiling in fibroblasts derived from patients with Gorlin syndrome

Journal of human genetics, 2019-08, Vol.64 (8), p.757-765

2019

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Spatiotemporal dynamics of OCT4 protein localization during preimplantation development in mice

Reproduction (Cambridge, England), 2016-11, Vol.152 (5), p.417-430

2016

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Chromatin condensation of Xist genomic loci during oogenesis in mice

Development (Cambridge), 2015-12, Vol.142 (23), p.4049-4055

2015

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Maintenance of Xist Imprinting Depends on Chromatin Condensation State and Rnf12 Dosage in Mice

PLoS genetics, 2016-10, Vol.12 (10), p.e1006375-e1006375

2016

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Specific temperament in patients with nevoid basal cell carcinoma syndrome

Pediatrics international, 2021-02, Vol.63 (2), p.177-182

2021

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Patched1 Haploinsufficiency Increases Adult Bone Mass and Modulates Gli3 Repressor Activity

Developmental cell, 2008-05, Vol.14 (5), p.689-699

2008

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Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma

American journal of medical genetics. Part A, 2012-02, Vol.158A (2), p.351-357

2012

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RCAN1 is an important mediator of glucocorticoid-induced apoptosis in human leukemic cells

PloS one, 2012-11, Vol.7 (11), p.e49926-e49926

2012

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L-leucine and SPNS1 coordinately ameliorate dysfunction of autophagy in mouse and human Niemann-Pick type C disease

Scientific reports, 2017-11, Vol.7 (1), p.15944-9, Article 15944

2017

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PTCH1-null induced pluripotent stem cells exclusively differentiate into immature ectodermal cells with large areas of medulloblastoma-like tissue

Discover. Oncology, 2022-05, Vol.13 (1), p.36-36, Article 36

2022

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Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome

Familial cancer, 2013-12, Vol.12 (4), p.611-614

2013

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A familial case of overgrowth syndrome caused by a 9q22.3 microdeletion in a mother and daughter

European journal of medical genetics, 2020-05, Vol.63 (5), p.103872-103872, Article 103872

2020

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Tumor suppressor p53 is a direct transcriptional activator of the human bax gene

Cell, 1995-01, Vol.80 (2), p.293-299

1995

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Molecular pathogenesis of keratocystic odontogenic tumors developing in nevoid basal cell carcinoma syndrome

Oral surgery, oral medicine, oral pathology and oral radiology, 2013-09, Vol.116 (3), p.348-353

2013

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The serine 106 residue within the N-terminal transactivation domain is crucial for Oct4 function in mice

Zygote (Cambridge), 2017-04, Vol.25 (2), p.197-204

2017

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Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene

Familial cancer, 2017-01, Vol.16 (1), p.131-138

2017

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Selective haploinsufficiency of longer isoforms of PTCH1 protein can cause nevoid basal cell carcinoma syndrome

Journal of human genetics, 2012-07, Vol.57 (7), p.422-426

2012

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A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features

Human genome variation, 2019-04, Vol.6 (1), p.16-16, Article 16

2019

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Mirror syndrome associated with fetal transient abnormal myelopoiesis in Down syndrome

Pathology international, 2015-08, Vol.65 (8), p.443-445

2015

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Role of FK506 binding protein 5 (FKBP5) in osteoclast differentiation

Modern rheumatology, 2013-11, Vol.23 (6), p.1133-1139

2013

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Heterozygous tandem duplication within the PTCH1 gene results in nevoid basal cell carcinoma syndrome

American journal of medical genetics. Part A, 2012-07, Vol.158A (7), p.1724-1728

2012

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U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites

Journal of human genetics, 2007-11, Vol.52 (11), p.891-897

2007

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Gorlin syndrome (nevoid basal cell carcinoma syndrome): Update and literature review

Confocal microscopy for intracellular co-localization of proteins

Establishment of a Gorlin syndrome model from induced neural progenitor cells exhibiting constitutive GLI1 expression and high sensitivity to inhibition by smoothened (SMO)

MicroRNAs profiling in fibroblasts derived from patients with Gorlin syndrome

Spatiotemporal dynamics of OCT4 protein localization during preimplantation development in mice

Chromatin condensation of Xist genomic loci during oogenesis in mice

Maintenance of Xist Imprinting Depends on Chromatin Condensation State and Rnf12 Dosage in Mice

Specific temperament in patients with nevoid basal cell carcinoma syndrome

Patched1 Haploinsufficiency Increases Adult Bone Mass and Modulates Gli3 Repressor Activity

Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma

RCAN1 is an important mediator of glucocorticoid-induced apoptosis in human leukemic cells

L-leucine and SPNS1 coordinately ameliorate dysfunction of autophagy in mouse and human Niemann-Pick type C disease

PTCH1-null induced pluripotent stem cells exclusively differentiate into immature ectodermal cells with large areas of medulloblastoma-like tissue

Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome

A familial case of overgrowth syndrome caused by a 9q22.3 microdeletion in a mother and daughter

Tumor suppressor p53 is a direct transcriptional activator of the human bax gene

Molecular pathogenesis of keratocystic odontogenic tumors developing in nevoid basal cell carcinoma syndrome

The serine 106 residue within the N-terminal transactivation domain is crucial for Oct4 function in mice

Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene

Selective haploinsufficiency of longer isoforms of PTCH1 protein can cause nevoid basal cell carcinoma syndrome

A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features

Mirror syndrome associated with fetal transient abnormal myelopoiesis in Down syndrome

Role of FK506 binding protein 5 (FKBP5) in osteoclast differentiation

Heterozygous tandem duplication within the PTCH1 gene results in nevoid basal cell carcinoma syndrome

U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites

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