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Article ; Online: Evaluation of electron radiation damage to green fluorescent protein.

Ikegami, H / Akiba, K / Minoda, H

2021 Volume 225, Page(s) 113272

Abstract: Green fluorescent protein (GFP) emits light when irradiated by not only light but also electrons. This electron-induced light emission called cathodoluminescence (CL) can be used to realize a high-resolution light emission microscopy based on the ... ...

Abstract	Green fluorescent protein (GFP) emits light when irradiated by not only light but also electrons. This electron-induced light emission called cathodoluminescence (CL) can be used to realize a high-resolution light emission microscopy based on the irradiation of a very narrow electron beam. To implement CL mapping in life sciences the investigation of the damage resistance of GFP to electron irradiation needs to be clarified. In this study, we investigated the electron radiation damage to GFP by analyzing the change in the CL intensity during electron beam irradiation. Since some of the CL spectra changed in shape during electron irradiation, the change in the intensity between 585 and 605 nm were measured. The characteristic doses at different electron current densities and electron energies were investigated. The characteristic dose of EGFP is much larger than that of coronene, which is one of the stable organic molecules against the electron beam irradiation.
MeSH term(s)	Electrons ; Green Fluorescent Proteins/chemistry ; Microscopy, Electron, Transmission/methods ; Microscopy, Fluorescence/methods
Chemical Substances	Green Fluorescent Proteins (147336-22-9)
Language	English
Publishing date	2021-04-15
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1479043-9
ISSN	1879-2723 ; 0304-3991
ISSN (online)	1879-2723
ISSN	0304-3991
DOI	10.1016/j.ultramic.2021.113272
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Article: On-Chip Modification of Titanium Electrothermal Characteristics by Joule Heating: Application to Terahertz Microbolometer.

Elamaran, Durgadevi / Akiba, Ko / Satoh, Hiroaki / Banerjee, Amit / Hiromoto, Norihisa / Inokawa, Hiroshi

Nanomaterials (Basel, Switzerland)

2024 Volume 14, Issue 2

Abstract: This study demonstrates the conversion of metallic titanium (Ti) to titanium oxide just by conducting electrical current through Ti thin film in vacuum and increasing the temperature by Joule heating. This led to the improvement of electrical and thermal ...

Abstract	This study demonstrates the conversion of metallic titanium (Ti) to titanium oxide just by conducting electrical current through Ti thin film in vacuum and increasing the temperature by Joule heating. This led to the improvement of electrical and thermal properties of a microbolometer. A microbolometer with an integrated Ti thermistor and heater width of 2.7 µm and a length of 50 µm was fabricated for the current study. Constant-voltage stresses were applied to the thermistor wire to observe the effect of the Joule heating on its properties. Thermistor resistance ~14 times the initial resistance was observed owing to the heating. A negative large temperature coefficient of resistance (TCR) of -0.32%/K was also observed owing to the treatment, leading to an improved responsivity of ~4.5 times from devices with untreated Ti thermistors. However, this does not improve the noise equivalent power (NEP), due to the increased flicker noise. Microstructural analyses with transmission electron microscopy (TEM), transmission electron diffraction (TED) and energy dispersive X-ray (EDX) confirm the formation of a titanium oxide (TiO
Language	English
Publishing date	2024-01-19
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662255-5
ISSN	2079-4991
ISSN	2079-4991
DOI	10.3390/nano14020225
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Article: Oral disintegrating desmopressin tablet is effective for partial congenital nephrogenic diabetes insipidus with

Ikegawa, Kento / Hachiya, Rumi / Akiba, Kazuhisa / Hasegawa, Yukihiro

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

2022 Volume 31, Issue 2, Page(s) 87–92

Abstract: Congenital nephrogenic diabetes insipidus (NDI) is a rare disease that causes polydipsia and polyuria, and there are currently no effective treatments for most cases, particularly severe ones. The present report describes the case of a 1-yr-5-mo-old male ...

Abstract	Congenital nephrogenic diabetes insipidus (NDI) is a rare disease that causes polydipsia and polyuria, and there are currently no effective treatments for most cases, particularly severe ones. The present report describes the case of a 1-yr-5-mo-old male patient with partial congenital NDI who was successfully treated with oral disintegrating 1-deamino-8-D-arginine vasopressin (DDAVP). The patient presented with poor weight gain and polydipsia (fluid, 1.5 L/d) and received a diagnosis of NDI after genetic analysis revealed an
Language	English
Publishing date	2022-02-18
Publishing country	Japan
Document type	Case Reports
ZDB-ID	2079760-6
ISSN	0918-5739
ISSN	0918-5739
DOI	10.1297/cpe.2021-0032
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Zs.A 5710: Show issues

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Article ; Online: A heterozygous protein-truncating RFX6 variant in a family with childhood-onset, pregnancy-associated and adult-onset diabetes.

Akiba, K / Ushijima, K / Fukami, M / Hasegawa, Y

Diabetic medicine : a journal of the British Diabetic Association

2019 Volume 37, Issue 10, Page(s) 1772–1776

Abstract: Background: Recently, heterozygous RFX6 mutations including p.Arg377Ter were identified in individuals with maturity-onset diabetes of the young (MODY). Clinical analysis of 36 individuals suggested that RFX6 mutation-induced MODY is characterized by ... ...

Abstract	Background: Recently, heterozygous RFX6 mutations including p.Arg377Ter were identified in individuals with maturity-onset diabetes of the young (MODY). Clinical analysis of 36 individuals suggested that RFX6 mutation-induced MODY is characterized by low penetrance and relatively late onset. However, given the small number of previous reports and the limited clinical information of each case, further studies are necessary to clarify the phenotypic characteristics of RFX6 mutations. Case report: We identified a previously reported p.Arg377Ter variant of RFX6 in a three-generation family with diabetes. The variant was detected through mutation screening for 30 diabetes-associated genes. The variant was not found in public databases and was predicted to encode a truncated protein or undergo nonsense-mediated mRNA decay. The proband showed glycosuria from 8 years of age and was diagnosed with MODY at 10 years of age, before the onset of puberty. She received basal and bolus insulin injection as initial therapy. The proband's mother exhibited glycosuria at 26 years of age when she conceived the first child. The mother was treated with insulin, oral hypoglycaemic drugs and diet. The proband and her mother were negative for islet cell autoantibodies. The maternal grandmother showed glycosuria around 50 years of age and was treated with oral hypoglycaemic drugs alone. Conclusion: This study provides supporting evidence for the causal relationship between heterozygous RFX6 mutations and MODY. Furthermore, our results indicate that phenotypic consequences of RFX6 mutations are highly variable even within a single family, and possibly include childhood-onset and pregnancy-associated non-autoimmune diabetes.
MeSH term(s)	Adult ; Age of Onset ; Child ; Codon, Nonsense ; Diabetes Mellitus, Type 2/diagnosis ; Diabetes Mellitus, Type 2/drug therapy ; Diabetes Mellitus, Type 2/genetics ; Diabetes, Gestational/diagnosis ; Diabetes, Gestational/genetics ; Diabetes, Gestational/therapy ; Family ; Female ; Heterozygote ; Humans ; Hypoglycemic Agents/therapeutic use ; Insulin/therapeutic use ; Middle Aged ; Pedigree ; Pregnancy ; Regulatory Factor X Transcription Factors/genetics
Chemical Substances	Codon, Nonsense ; Hypoglycemic Agents ; Insulin ; Regulatory Factor X Transcription Factors ; Rfx6 protein, human
Language	English
Publishing date	2019-06-05
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	605769-x
ISSN	1464-5491 ; 0742-3071 ; 1466-5468
ISSN (online)	1464-5491
ISSN	0742-3071 ; 1466-5468
DOI	10.1111/dme.13970
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Zs.A 1954: Show issues

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Article ; Online: Longitudinal clinical course in patients with 5α-reductase type 2 deficiency treated with testosterone and dihydrotestosterone during infancy and puberty.

Ariyasu, Daisuke / Nagamatsu, Fusa / Aso, Keiko / Akiba, Kazuhisa / Hasegawa, Yukihiro

Endocrine journal

2022 Volume 70, Issue 1, Page(s) 59–67

Abstract: 5α-reductase type 2 (5αRD2) deficiency is a 46,XY disorder of sex development caused by impaired conversion of testosterone (T) to dihydrotestosterone (DHT). Penile enlargement therapy is important for male patients with 46,XY 5αRD2 deficiency who have ... ...

Abstract	5α-reductase type 2 (5αRD2) deficiency is a 46,XY disorder of sex development caused by impaired conversion of testosterone (T) to dihydrotestosterone (DHT). Penile enlargement therapy is important for male patients with 46,XY 5αRD2 deficiency who have undermasculinized external genitalia, such as severe micropenis. High-dose T and percutaneous DHT replacement are reportedly efficacious for penile enlargement in patients with this disorder. We presented herein the longitudinal course of four patients with 46,XY 5αRD2 deficiency who received T and DHT. T replacement therapy during infancy increased the stretched penile length (SPL) in three of the patients but was ineffective in one patient. DHT was administered to the three patients after T replacement therapy and further increased the SPL. During and after puberty, two patients asked for and received T replacement therapy, which contributed to increasing their SPL. A semen test in one patient with T replacement therapy at age 27 years revealed cryptozoospermia despite normal testicular volume. The clinical course of our patients during infancy indicated that DHT therapy may be preferrable to T replacement therapy for penile enlargement in patients with 5αRD2 deficiency. During and after puberty, T replacement therapy promoted penile enlargement possibly because of increased conversion of T to DHT via increased 5α-reductase type 1 activity even in patients in whom it was ineffective during infancy. In conclusion, DHT is effective for penile enlargement during infancy in patients with 5αRD2 deficiency while T replacement therapy is a viable option during puberty.
MeSH term(s)	Humans ; Male ; Infant ; Adult ; Testosterone/therapeutic use ; Dihydrotestosterone/therapeutic use ; Puberty ; Oxidoreductases ; Disease Progression
Chemical Substances	Testosterone (3XMK78S47O) ; Dihydrotestosterone (08J2K08A3Y) ; Oxidoreductases (EC 1.-)
Language	English
Publishing date	2022-10-08
Publishing country	Japan
Document type	Journal Article
ZDB-ID	1151918-6
ISSN	1348-4540 ; 0918-8959
ISSN (online)	1348-4540
ISSN	0918-8959
DOI	10.1507/endocrj.EJ22-0112
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Article: Therapeutic needs from early childhood in four patients with 21-hydroxylase deficiency harboring the P30L mutation on one allele.

Itonaga, Tomoyo / Akiba, Kazuhisa / Hasegawa, Yukihiro

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

2021 Volume 30, Issue 4, Page(s) 187–193

Abstract: 21-hydroxylase deficiency (21-OHD) is the most common type of congenital adrenal hyperplasia. Phenotypically, 21-OHD can be divided into classical and non-classical (NC) forms. The genotype-phenotype correlation in 21-OHD is well established. The P30L ... ...

Abstract	21-hydroxylase deficiency (21-OHD) is the most common type of congenital adrenal hyperplasia. Phenotypically, 21-OHD can be divided into classical and non-classical (NC) forms. The genotype-phenotype correlation in 21-OHD is well established. The P30L mutation is usually associated with the NC form and common among Japanese patients with the NC form of 21-OHD. Herein, we report the clinical course of four patients with 21-OHD with the P30L mutation on one allele and loss-of-function variants on the other allele. Contrary to the findings of most previous studies, all patients were treated with hydrocortisone, and two required fludrocortisone therapy in early childhood. The management strategies for patients with 21-OHD, especially those with the P30L mutation on at least one allele, should be determined based on the clinical phenotype predicted by the
Language	English
Publishing date	2021-10-01
Publishing country	Japan
Document type	Case Reports
ZDB-ID	2079760-6
ISSN	0918-5739
ISSN	0918-5739
DOI	10.1297/cpe.30.187
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Article ; Online: Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency.

Akiba, Kazuhisa / Aso, Keiko / Hasegawa, Yukihiro / Fukami, Maki

Journal of pediatric endocrinology & metabolism : JPEM

2021 Volume 34, Issue 9, Page(s) 1191–1195

Abstract: Objectives: 5α-reductase type 2 deficiency due to biallelic : Case presentation: A Chinese neonate presented with ambiguous genitalia. He carried a homozygous likely_pathogenic : Conclusions: This study provides evidence for the founder effect of ... ...

Abstract	Objectives: 5α-reductase type 2 deficiency due to biallelic Case presentation: A Chinese neonate presented with ambiguous genitalia. He carried a homozygous likely_pathogenic Conclusions: This study provides evidence for the founder effect of an
MeSH term(s)	3-Oxo-5-alpha-Steroid 4-Dehydrogenase/deficiency ; 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics ; Androgens/blood ; Disorder of Sex Development, 46,XY/blood ; Disorder of Sex Development, 46,XY/genetics ; Disorder of Sex Development, 46,XY/pathology ; Family ; Humans ; Infant ; Male ; Membrane Proteins/deficiency ; Membrane Proteins/genetics ; Mutation ; Polymorphism, Single Nucleotide ; Prognosis
Chemical Substances	Androgens ; Membrane Proteins ; 3-Oxo-5-alpha-Steroid 4-Dehydrogenase (EC 1.3.99.5) ; SRD5A2 protein, human (EC 1.3.99.5)
Language	English
Publishing date	2021-06-24
Publishing country	Germany
Document type	Case Reports
ZDB-ID	1231070-0
ISSN	2191-0251 ; 0334-018X
ISSN (online)	2191-0251
ISSN	0334-018X
DOI	10.1515/jpem-2020-0678
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Zs.A 2258: Show issues

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Article ; Online: Congenital Hypothyroidism with thyroid in situ: a case report with NKX2-1 and DUOX2 hypomorphic variants.

Uehara, Erika / Hori, Naoaki / Tanase-Nakao, Kanako / Akiba, Kazuhisa / Sueoka, Hidefumi / Matsubara, Keiko / Narumi, Satoshi

Hormone research in paediatrics

2024

Abstract: Introduction: NK2 homeobox 1 (NKX2-1) encodes a transcription factor NKX2-1 that is expressed in the thyroid gland, lung and brain. Dual oxidase 2 (DUOX2) encodes an enzyme which generates hydrogen peroxide and is involved in the thyroid hormone ... ...

Abstract	Introduction: NK2 homeobox 1 (NKX2-1) encodes a transcription factor NKX2-1 that is expressed in the thyroid gland, lung and brain. Dual oxidase 2 (DUOX2) encodes an enzyme which generates hydrogen peroxide and is involved in the thyroid hormone synthesis. Cases of congenital hypothyroidism (CH) with dyshormonogenesis showing two or more genetic variants are increasingly reported. We describe the first case of transient dyshormonogenesis who had experimentally-verified a loss of function NKX2-1 variant and DUOX2 variants. Case presentation: The proband was a 15-year-old female patient with CH who was diagnosed in the frame of newborn screening for CH. She had a mildly elevated serum TSH level (14.56 mU/L), a low free thyroxine level (0.87 ng/dL), and a high thyroglobulin (Tg) level (>800 ng/mL). Ultrasonography revealed goiter. She was followed clinically without levothyroxine treatment, and showed normal growth and development. She had slightly high Tg levels throughout the clinical course. Next-generation sequencing-based genetic analysis revealed that the patient was heterozygous for an NKX2-1 variant (p.Ile228Ser), a nonsense DUOX2 variant (p.[Lys530;His678Arg]), and a functional DUOX2 polymorphism (p.His678Arg). NKX2-1 p.Ile228Ser showed about 50% reduced residual activity on the Tg-promoter. Conclusion:* A partial loss-of-function NKX2-1 variant with a monoallelic nonsense DUOX2 variant and a DUOX2 functional polymorphism can cause transient CH with high serum Tg levels.
Language	English
Publishing date	2024-04-18
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2537278-6
ISSN	1663-2826 ; 1663-2818
ISSN (online)	1663-2826
ISSN	1663-2818
DOI	10.1159/000538895
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Article: Phylogenetic status of Iotonchium Cobb, 1920 and a note on the distribution of I. ungulatum Aihara, 2001

Kanzaki, N. / Tsuda, K. / Akiba, K. / Ekino, M. / Sawahata, T. / Kosaka, H.

Nematology

2021 Volume 23, Issue 10, Page(s) 1205

Language	English
Document type	Article
ZDB-ID	1450013-9
ISSN	1388-5545
Database	Current Contents Nutrition, Environment, Agriculture

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Article ; Online: Diffusion-Dominated Luminescence Dynamics of CsPbBr

Nekita, Sho / Yanagimoto, Sotatsu / Sannomiya, Takumi / Akiba, Keiichirou / Takiguchi, Masato / Sumikura, Hisashi / Takagi, Itsuki / Nakamura, Kazutaka G / Yip, SenPo / Meng, You / Ho, Johnny C / Okuyama, Tetsuya / Murayama, Mitsuhiro / Saito, Hikaru

Nano letters

2024 Volume 24, Issue 13, Page(s) 3971–3977

Abstract: Time-resolved or time-correlation measurements using cathodoluminescence (CL) reveal the electronic and optical properties of semiconductors, such as their carrier lifetimes, at the nanoscale. However, halide perovskites, which are promising ... ...

Abstract	Time-resolved or time-correlation measurements using cathodoluminescence (CL) reveal the electronic and optical properties of semiconductors, such as their carrier lifetimes, at the nanoscale. However, halide perovskites, which are promising optoelectronic materials, exhibit significantly different decay dynamics in their CL and photoluminescence (PL). We conducted time-correlation CL measurements of CsPbBr
Language	English
Publishing date	2024-03-19
Publishing country	United States
Document type	Journal Article
ISSN	1530-6992
ISSN (online)	1530-6992
DOI	10.1021/acs.nanolett.4c00483
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