A5062767140- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genomic variations and chromosomal abnormalities
- Estrogen and related hormone effects
- Vitamin D Research Studies
- Reproductive Physiology in Livestock
- Sperm and Testicular Function
- Connective tissue disorders research
- Hedgehog Signaling Pathway Studies
- Tumors and Oncological Cases
- Cancer, Hypoxia, and Metabolism
- Cancer and Skin Lesions
- Congenital heart defects research
- Growth Hormone and Insulin-like Growth Factors
- Sexual Differentiation and Disorders
- Glycosylation and Glycoproteins Research
- Dermatological and Skeletal Disorders
- Prenatal Screening and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Cultural and Historical Studies
- Hypertrophic osteoarthropathy and related conditions
- RNA modifications and cancer
- Genetic Syndromes and Imprinting
- Hormonal Regulation and Hypertension
- Multimedia Communication and Technology
- Fibroblast Growth Factor Research
Tokyo Dental College Ichikawa General Hospital
2004-2019
Tokyo Dental College
2001-2008
Suntory (Japan)
2008
Kyushu University
2002
Hiroshima University
2001
Takeda (Japan)
2001
University of Hawaii System
1992-1997
University of Hawaiʻi at Mānoa
1995
Hyogo University of Teacher Education
1994
Tokyo Institute of Technology
1984
ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTBiological activity 1,25-dihydroxycholecalciferolH. F. DeLuca, J. Omdahl, M. Holick, T. Suda, and Y. TanakaCite this: Biochemistry 1971, 10, 15, 2935–2940Publication Date (Print):July 20, 1971Publication History Published online1 May 2002Published inissue 20 July 1971https://doi.org/10.1021/bi00791a022Request reuse permissions Article Views139Altmetric-Citations229LEARN ABOUT THESE METRICSArticle Views are the COUNTER-compliant sum of full text...
We introduce an intuitive particle-based model of time-symmetric quantum physics that gives a concrete description what goes on in the time between projective measurements system. The time-symmetry this means we ...Physical interpretations formulation mechanics, due to Aharonov, Bergmann, and Lebowitz are discussed terms weak values. most direct, yet somewhat naive, interpretation uses ...
Heterozygous mutations of COL2A1 create several clinical entities collectively termed type II collagenopathies. These disorders not only impair skeletal growth but also cause ocular and otolaryngological abnormalities. The classical phenotypes include the spondyloepiphyseal dysplasia (SED) spectrum with variable severity, Stickler I (STD-I), Kniest (KND). Most occur in triple helical region alpha 1(II) chains: SED is mostly attributed to missense that substitute bulky amino acids for glycine...
Abstract We report on PTPN11 (protein-tyrosine phosphatase, nonreceptor type 11) mutation analysis and clinical assessment in 45 patients with Noonan syndrome. Sequence was performed for all of the coding exons 1–15 PTPN11, revealing a novel 3-bp deletion 10 recurrent missense mutations 18 patients. Clinical showed that 1) growth pattern similar mutation-positive mutation-negative patients, no significant difference birth length [−0.6 ± 2.2 sd (n = 10) vs. −0.6 1.4 21); P 0.95], childhood...
Summary Azoospermia affects up to 1% of adult men. Non‐obstructive azoospermia is a multifactorial disorder whose molecular basis remains largely unknown. To date, mutations in several genes and multiple submicroscopic copy‐number variations ( CNV s) have been identified patients with non‐obstructive azoospermia. The aim this study was clarify the contribution nucleotide substitutions known causative s genome development end, we conducted sequence analysis 25 disease‐associated using...
Actinomycin D (or cycloheximide) administered prior to radioactive 25-hydroxycholecalciferol blocks the metabolism of polar metabolites that accumulate in intestinal tissue, while it does not prevent 25-hydroxylation vitamin D(3) liver. given after inhibit metabolism. These results indicate must interact with nuclei cells bring about production an enzyme(s) converts its metabolites.
Significance Statement The stimulatory G-protein α -subunit GNAS -Gs mediates signal transduction of multiple G protein–coupled receptors, including arginine vasopressin receptor 2 (AVPR2). Specific gain-of-function variants in AVPR2 are known causes nephrogenic syndrome inappropriate antidiuresis (NSIAD), an vasopressin–independent antidiuresis. In two families with NSIAD, after excluding variants, the authors identified novel germline-derived . They also showed that both had effects were...
Abstract We recently found mutations of the transforming growth factor beta 1 (TGF‐β1) gene ( TGFB1 ) in 9 families, which progressive diaphyseal dysplasia (Camurati‐Engelmann disease) is segregating [Kinoshita et al., 2000 : Nat Genetics 26:19–20]. During study, we encountered two unrelated girls, aged 17 and 11 years, who had clinical manifestations disorder, such as marfanoid habitus, waddling gait, muscular weakness, intense leg pain, flexion contracture hip knee joints, delayed sexual...
trans Diaxial opening with potassium hydrogen difluoride of the 1β, 2β-epoxy-3β-ol derived from cholenic acid gave 1α-fluoro-2β, 3β-diol derivative. Construction 25-hydroxy cholesterol side chain and deoxygenation 2β-hydroxy group afforded 1α-fluoro-3β, 25-dihydroxycholest-5-ene, which was transformed into 1α-fluoro-25-hydroxyvitamin D3. A single dose 1.3μg D3 produced neither an intestinal calcium transport response nor a bone mobilization in vitamin D-deficient rats. In same rats, 50ng...
Congenital anomaly syndromes manifesting overgrowth are rare, and only a small number of recognized or defined conditions known to be associated with overgrowth. Some them related genomic imprinting as genetic cause. We report girl who showed pre‐ postnatal was found have 2.3‐Mb deletion 9q22.32 involving PTCH1 , the gene responsible for Gorlin syndrome (nevoid basal cell carcinoma syndrome), by array‐comparative hybridization analysis. Clinical re‐evaluation according diagnostic criteria...
STX2 encodes a sulfoglycolipid transporter. Although Stx2 nullizygosity is known to cause spermatogenic failure in mice, mutations have not been identified humans. Here, we performed mutation analysis for 131 Japanese men clinically diagnosed with nonobstructive azoospermia. As result, homozygous frameshift [c.8_12delACCGG, p.(Asp3Alafs*8)] one patient. The mutation-positive patient exhibited loss-of-heterozygosity 58.4 Mb genomic regions involving STX2, suggesting possible parental...
We report a de novo heterozygous 5,013,940 bp terminal deletion of chromosome 15q26 in 13 9/12 -year-old Japanese girl with short stature (-3.9 SD), mild mental retardation, and ventricular septal defect (VSD). This involved IGF1R but not NR2F2, was associated an addition telomere repeat sequences (TTAGGG) at the end truncated chromosome. The results provide further support for notion that deletions are healed by essential stability DNA replication. Furthermore, while growth failure...
ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTUnique rearrangement of ergocalciferol side chain in vitro: production a biologically highly active homologue 1,25-dihydroxyvitamin D3Yoko Tanaka, Rafal R. Sicinski, Hector F. DeLuca, Hiroshi Sai, and Nobuo IkekawaCite this: Biochemistry 1986, 25, 19, 5512–5518Publication Date (Print):September 23, 1986Publication History Published online1 May 2002Published inissue 23 September...