Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
…, C Lee, EH Turner, JD Smith, MJ Rieder, K Yoshiura… - Nature …, 2010 - nature.com
We demonstrate the successful application of exome sequencing 1 , 2 , 3 to discover a gene
for an autosomal dominant disorder, Kabuki syndrome (OMIM%147920). We subjected the …
for an autosomal dominant disorder, Kabuki syndrome (OMIM%147920). We subjected the …
[HTML][HTML] Interferon Regulatory Factor 6 (IRF6) Gene Variants and the Risk of Isolated Cleft Lip or Palate
…, J Machida, N Natsume, KI Yoshiura… - … England Journal of …, 2004 - Mass Medical Soc
Background Cleft lip or palate (or the two in combination) is a common birth defect that results
from a mixture of genetic and environmental factors. We searched for a specific genetic …
from a mixture of genetic and environmental factors. We searched for a specific genetic …
Narrowband deep-blue organic light-emitting diode featuring an organoboron-based emitter
Y Kondo, K Yoshiura, S Kitera, H Nishi, S Oda… - Nature …, 2019 - nature.com
… To estimate the ΔE ST value, we obtained the emission spectra of the film at 77 K with … (k
F ), internal conversion (k IC ), intersystem crossing (k ISC ) and reverse intersystem crossing (k …
F ), internal conversion (k IC ), intersystem crossing (k ISC ) and reverse intersystem crossing (k …
Haploinsufficiency of NSD1 causes Sotos syndrome
…, H Tomita, A Kinoshita, T Mizuguchi, K Yoshiura… - Nature …, 2002 - nature.com
We isolated NSD1 from the 5q35 breakpoint in an individual with Sotos syndrome harboring
a chromosomal translocation. We identified 1 nonsense, 3 frameshift and 20 …
a chromosomal translocation. We identified 1 nonsense, 3 frameshift and 20 …
Silencing of the E-cadherin invasion-suppressor gene by CpG methylation in human carcinomas.
K Yoshiura, Y Kanai, A Ochiai… - Proceedings of the …, 1995 - National Acad Sciences
E-Cadherin, a cell adhesion molecule, which plays a key role in maintaining the epithelial
phenotype, is regarded as an invasion-suppressor gene in light of accumulating evidence …
phenotype, is regarded as an invasion-suppressor gene in light of accumulating evidence …
Percutaneous ethanol injection therapy for hepatocellular carcinoma: results in 146 patients.
…, T Unuma, Y Komatsu, K Yoshiura… - … American journal of …, 1993 - Am Roentgen Ray Soc
Sonographically guided percutaneous ethanol injection therapy has been used widely in the
treatment of hepatocellular carcinoma. However, few reports have been published on the …
treatment of hepatocellular carcinoma. However, few reports have been published on the …
Heterozygous TGFBR2 mutations in Marfan syndrome
…, H Morisaki, M Ihara, A Kinoshita, K Yoshiura… - Nature …, 2004 - nature.com
Marfan syndrome is an extracellular matrix disorder with cardinal manifestations in the eye,
skeleton and cardiovascular systems associated with defects in the gene encoding fibrillin (…
skeleton and cardiovascular systems associated with defects in the gene encoding fibrillin (…
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome
…, K Eguchi, H Ida, K Yoshiura - Proceedings of the …, 2011 - National Acad Sciences
Nakajo-Nishimura syndrome (NNS) is a disorder that segregates in an autosomal recessive
fashion. Symptoms include periodic fever, skin rash, partial lipomuscular atrophy, and joint …
fashion. Symptoms include periodic fever, skin rash, partial lipomuscular atrophy, and joint …
A SNP in the ABCC11 gene is the determinant of human earwax type
K Yoshiura, A Kinoshita, T Ishida, A Ninokata… - Nature …, 2006 - nature.com
Human earwax consists of wet and dry types. Dry earwax is frequent in East Asians,
whereas wet earwax is common in other populations. Here we show that a SNP, 538G → A (…
whereas wet earwax is common in other populations. Here we show that a SNP, 538G → A (…
One-shot multiple borylation toward BN-doped nanographenes
K Matsui, S Oda, K Yoshiura, K Nakajima… - Journal of the …, 2018 - ACS Publications
One-shot double, triple, and quadruple borylation reactions of triarylamines were developed
through a judicious choice of boron source and Brønsted base. With the aid of borylation …
through a judicious choice of boron source and Brønsted base. With the aid of borylation …