Achondrogenesis

2007 ◽  
Vol 10 (4) ◽  
pp. 253-255 ◽  
Author(s):  
Raj P. Kapur
Keyword(s):  
Cartilage Matrix ◽  
Genotypic Differences ◽  
Skeletal Dysplasias ◽  
Type Ia ◽  
Achondrogenesis Type ◽  
Insight Into ◽  
Developmental Pathology

In this issue of Pediatric and Developmental Pathology, Aigner and colleagues report a detailed investigation of cartilage matrix changes in a 14-week fetus with achondrogenesis type IA [ 1 ]. The changes reported differ from matrix alterations observed in achondrogenesis types IB or II and provide insight into the phenotypic and genotypic differences within this group of skeletal dysplasias.

Achondrogenesis Type IA (Houston-Harris): A Still-Unresolved Molecular Phenotype

2007 ◽  
Vol 10 (4) ◽  
pp. 328-334 ◽  
Author(s):  
Thomas Aigner ◽  
Tilman Rau ◽  
Manuel Niederhagen ◽  
Frank Zaucke ◽  
Markus Schmitz ◽  
...  
Keyword(s):  
Ultrastructural Level ◽  
Cartilage Matrix ◽  
Endochondral Bone Formation ◽  
Matrix Assembly ◽  
Endochondral Bone ◽  
Zone Formation ◽  
Chondrocyte Maturation ◽  
Oligomeric Protein ◽  
Type Ia ◽  
Achondrogenesis Type

Achondrogenesis type IA (Houston-Harris) is an extremely rare lethal chondrodysplasia with a characteristic severe disarrangement of endochondral ossification. The growth plate cartilage completely lacks columnar-zone formation and shows chondrocyte expansion due to intracellular vacuoles. This article on a new case of achondrogenesis type IA confirms these findings and demonstrates, on the ultrastructural level, the retention of fine fibrillar material within the rough endoplasmic reticulum (rER). Molecular analysis in the presented case of achondrogenesis type IA did not reveal mutations in the COL2A1 and SLC26A2 genes, which are known to cause achondrogenesis types IB and type II. Although the extracellular cartilage matrix was severely altered, all of the investigated matrix molecules (collagens, aggrecan, matrilins, cartilage oligomeric protein [COMP]) showed a normal distribution pattern. The only exception was type-X collagen, which was significantly reduced. Overall, our study suggests a disturbance in cartilage matrix assembly in the present case due to the retention of some sort of matrix component within the rER. Presumably, as a consequence of this event, processes of chondrocyte maturation and differentiation and endochondral bone formation are severely affected in this case of achondrogenesis type IA.

scholarly journals On the Trigonometric Descriptions of Colors

2016 ◽  
Vol 8 (3) ◽  
pp. 5
Author(s):  
Jirí Stavek
Keyword(s):  
Experimental Data ◽  
Transverse Energy ◽  
Gravitational Constant ◽  
Isaac Newton ◽  
Type Ia ◽  
New Interpretation ◽  
The Stability ◽  
Mass Evaporation ◽  
Supernovae Type Ia ◽  
Insight Into

<p class="1Body">An attempt is presented for the description of the spectral colors using the standard trigonometric tools in order to extract more information about photons. We have arranged the spectral colors on an arc of the circle with the radius R = 1 and the central angle θ = π/3 when we have defined cos (θ) = λ<sub>380</sub>/λ<sub>760</sub> = 0.5. Several trigonometric operations were applied in order to find the gravity centers for the scotopic, photopic, and mesopic visions. The concept of the center of gravity of colors introduced Isaac Newton. We have postulated properties of the long-lived photons with the new interpretation of the Hubble (Zwicky-Nernst) constant H<sub>0</sub> = 2.748… * 10<sup>-18</sup> kg kg<sup>-1 </sup>s<sup>-1</sup>, the specific mass evaporation rate (SMER) of gravitons from the source mass. The stability of international prototypes of kilogram has been regularly checked. We predict that those standard kilograms due to the evaporation of gravitons lost 8.67 μg kg<sup>-1</sup> century<sup>-1</sup>. The energy of long-lived photons was trigonometrically decomposed into three parts that could be experimentally tested: longitudinal energy, transverse energy and energy of evaporated gravitons. We tested the properties of the long-lived photons with the experimental data published for the best available standard candles: supernovae Type Ia. There was found a surprising match of those experimental data with the model of the long-lived photons. Finally, we have proposed a possible decomposition of the big G (Newtonian gravitational constant) and the small kappa κ (Einsteinian gravitational constant) in order to get a new insight into the mysterious gravitational force and/or the curvature concept.</p>

scholarly journals Comprehensive Comparative Genomics and Phenotyping of Methylobacterium Species

2021 ◽  
Vol 12 ◽  
Author(s):  
Ola Alessa ◽  
Yoshitoshi Ogura ◽  
Yoshiko Fujitani ◽  
Hideto Takami ◽  
Tetsuya Hayashi ◽  
...  
Keyword(s):  
Comparative Genomics ◽  
Phylogenetic Relationship ◽  
Distinct Species ◽  
Genotypic Differences ◽  
Clade C ◽  
Single Genus ◽  
Almost All ◽  
Type Strains ◽  
Dependent Pathway ◽  
Insight Into

The pink-pigmented facultative methylotrophs (PPFMs), a major bacterial group found in the plant phyllosphere, comprise two genera: Methylobacterium and Methylorubrum. They have been separated into three major clades: A, B (Methylorubrum), and C. Within these genera, however, some species lack either pigmentation or methylotrophy, which raises the question of what actually defines the PPFMs. The present study employed a comprehensive comparative genomics approach to reveal the phylogenetic relationship among the PPFMs and to explain the genotypic differences that confer their different phenotypes. We newly sequenced the genomes of 29 relevant-type strains to complete a dataset for almost all validly published species in the genera. Through comparative analysis, we revealed that methylotrophy, nitrate utilization, and anoxygenic photosynthesis are hallmarks differentiating the PPFMs from the other Methylobacteriaceae. The Methylobacterium species in clade A, including the type species Methylobacterium organophilum, were phylogenetically classified into six subclades, each possessing relatively high genomic homology and shared phenotypic characteristics. One of these subclades is phylogenetically close to Methylorubrum species; this finding led us to reunite the two genera into a single genus Methylobacterium. Clade C, meanwhile, is composed of phylogenetically distinct species that share relatively higher percent G+C content and larger genome sizes, including larger numbers of secondary metabolite clusters. Most species of clade C and some of clade A have the glutathione-dependent pathway for formaldehyde oxidation in addition to the H4MPT pathway. Some species cannot utilize methanol due to their lack of MxaF-type methanol dehydrogenase (MDH), but most harbor an XoxF-type MDH that enables growth on methanol in the presence of lanthanum. The genomes of PPFMs encode between two and seven (average 3.7) genes for pyrroloquinoline quinone-dependent alcohol dehydrogenases, and their phylogeny is distinctly correlated with their genomic phylogeny. All PPFMs were capable of synthesizing auxin and did not induce any immune response in rice cells. Other phenotypes including sugar utilization, antibiotic resistance, and antifungal activity correlated with their phylogenetic relationship. This study provides the first inclusive genotypic insight into the phylogeny and phenotypes of PPFMs.

scholarly journals Studying the Progenitors of Type Ia Supernovae via Lensing with the Kepler Survey

2011 ◽  
Vol 7 (S281) ◽  
pp. 34-35
Author(s):  
Rosanne Di Stefano
Keyword(s):  
Mass Transfer ◽  
White Dwarf ◽  
Type Ia Supernovae ◽  
Valuable Insight ◽  
Common Envelope ◽  
Type Ia ◽  
Pass Through ◽  
Ia Supernovae ◽  
Insight Into

AbstractEvery model for the progenitors of Type Ia supernovae (SNe Ia) requires that binaries pass through an epoch during which a white dwarf (WD) orbits a non-degenerate star. Depending on the mass of the WD, the radius of its companion, and the orbital separation, the WD may lens its companion. The lensing event would be an antitransit, an increase in light from the companion that can rise to the level of a percent or more, during an interval of hours. Antitransits are periodic. By studying them we can determine the properties of both the WD and its companion, as well as the characteristics of the orbit. Lensing events of this type are almost certain to be observed by the Kepler mission, while some can even be detected by ground-based surveys. Antitransits and transits will both provide valuable insight into the end states of common envelope evolution and of stable mass transfer, resolving issues that must be understood before we can fully unravel the progenitor puzzle.

scholarly journals Nucleosynthesis imprints from different Type Ia supernova explosion scenarios and implications for galactic chemical evolution

2020 ◽  
Vol 644 ◽  
pp. A118
Author(s):  
F. Lach ◽  
F. K. Röpke ◽  
I. R. Seitenzahl ◽  
B. Coté ◽  
S. Gronow ◽  
...  
Keyword(s):  
Chemical Evolution ◽  
White Dwarfs ◽  
Supernova Explosion ◽  
Detailed Comparison ◽  
Galactic Chemical Evolution ◽  
Type Ia Supernova ◽  
Type Ia ◽  
Pure Helium ◽  
Ia Supernovae ◽  
Insight Into

We analyze the nucleosynthesis yields of various Type Ia supernova explosion simulations including pure detonations in sub-Chandrasekhar mass white dwarfs; double detonations and pure helium detonations of sub-Chandrasekhar mass white dwarfs with an accreted helium envelope; a violent merger model of two white dwarfs; and deflagrations and delayed detonations in Chandrasekhar mass white dwarfs. We focus on the iron peak elements Mn, Zn, and Cu. To this end, we also briefly review the different burning regimes and production sites of these elements, as well as the results of abundance measurements and several galactic chemical evolution studies. We find that super-solar values of [Mn/Fe] are not restricted to Chandrasekhar mass explosion models. Scenarios including a helium detonation can significantly contribute to the production of Mn, in particular the models proposed for calcium-rich transients. Although Type Ia supernovae are often not accounted for as production sites of Zn and Cu, our models involving helium shell detonations can produce these elements in super-solar ratios relative to Fe. Our results suggest a re-consideration of Type Ia supernova yields in galactic chemical evolution models. A detailed comparison with observations can provide new insight into the progenitor and explosion channels of these events.

scholarly journals Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia

2021 ◽  
Vol 12 ◽  
Author(s):  
Alice Costantini ◽  
Helena Valta ◽  
Anne-Maarit Suomi ◽  
Outi Mäkitie ◽  
Fulya Taylan
Keyword(s):  
Skeletal Dysplasia ◽  
Index Patient ◽  
Bioinformatic Analysis ◽  
Skeletal Dysplasias ◽  
Pathogenic Variants ◽  
The Family ◽  
Inheritance Model ◽  
Type Ia ◽  
Oligogenic Inheritance ◽  
Severe Short Stature

Skeletal dysplasias are often well characterized, and only a minority of the cases remain unsolved after a thorough analysis of pathogenic variants in over 400 genes that are presently known to cause monogenic skeletal diseases. Here, we describe an 11-year-old Finnish girl, born to unrelated healthy parents, who had severe short stature and a phenotype similar to odontochondrodysplasia (ODCD), a monogenic skeletal dysplasia caused by biallelic TRIP11 variants. The family had previously lost a fetus due to severe skeletal dysplasia. Exome sequencing and bioinformatic analysis revealed an oligogenic inheritance of a heterozygous nonsense mutation in TRIP11 and four likely pathogenic missense variants in FKBP10, TBX5, NEK1, and NBAS in the index patient. Interestingly, all these genes except TBX5 are known to cause skeletal dysplasia in an autosomal recessive manner. In contrast, the fetus was found homozygous for the TRIP11 mutation, and achondrogenesis type IA diagnosis was, thus, molecularly confirmed, indicating two different skeletal dysplasia forms in the family. To the best of our knowledge, this is the first report of an oligogenic inheritance model of a skeletal dysplasia in a Finnish family. Our findings may have implications for genetic counseling and for understanding the yet unsolved cases of rare skeletal dysplasias.

scholarly journals A New Insight into the Observations and Analysis of Type Ia Supernovae

2021 ◽  
Vol 09 (07) ◽  
pp. 1808-1820
Author(s):  
Qiuhe Peng ◽  
Jingjing Liu
Keyword(s):  
Type Ia Supernovae ◽  
Type Ia ◽  
Ia Supernovae ◽  
Insight Into

Achondrogenesis Type IB

2001 ◽  
Vol 125 (10) ◽  
pp. 1375-1378
Author(s):  
Alessandro Corsi ◽  
Mara Riminucci ◽  
Larry W. Fisher ◽  
Paolo Bianco
Keyword(s):  
Cartilage Matrix ◽  
Endochondral Bone Formation ◽  
Transporter Gene ◽  
Sulfate Transporter ◽  
Matrix Assembly ◽  
Endochondral Bone ◽  
Skeletal Phenotype ◽  
Matrix Organization ◽  
Achondrogenesis Type ◽  
Sulfate Transporter Gene

Abstract Achondrogenesis type IB is a lethal osteochondrodysplasia caused by mutations in the diastrophic dysplasia sulfate transporter gene. How these mutations lead to the skeletal phenotype is not known. Histology of plastic-embedded skeletal fetal achondrogenesis type IB samples suggested that interterritorial epiphyseal cartilage matrix was selectively missing. Cartilage was organized in “chondrons” separated by cleft spaces; chondrocyte seriation, longitudinal septa, and, in turn, mineralized cartilaginous septa were absent. Agenesis of interterritorial matrix as the key histologic change was confirmed by immunohistology using specific markers of territorial and interterritorial matrix. Biglycan-enriched territorial matrix was preserved; decorin-enriched interterritorial areas were absent, although immunostaining was observed within chondrocytes. Thus, in achondrogenesis type IB: (1) a complex derangement in cartilage matrix assembly lies downstream of the deficient sulfate transporter activity; (2) the severely impaired decorin deposition participates in the changes in matrix organization with lack of development of normal interterritorial matrix; and (3) this change determines the lack of the necessary structural substrate for proper endochondral bone formation and explains the severe skeletal phenotype.

New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias

2001 ◽  
Vol 31 (12) ◽  
pp. 893-894 ◽  
Author(s):  
S. Unger ◽  
M. Le Merrer ◽  
P. Meinecke ◽  
D. Chitayat ◽  
A. Rossi ◽  
...  
Keyword(s):  
Molecular Biology ◽  
Skeletal Dysplasias ◽  
Achondrogenesis Type
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