A ZRS duplication causes syndactyly type IV with tibial hypoplasia

2009 ◽  
Vol 149A (4) ◽  
pp. 816-818 ◽  
Author(s):  
Lingqian Wu ◽  
Desheng Liang ◽  
Norio Niikawa ◽  
Fen Ma ◽  
Miao Sun ◽  
...  
Keyword(s):  
Type Iv ◽  
Syndactyly Type Iv

Syndactyly type IV/hexadactyly of feet associated with unilateral absence of the tibia

1991 ◽  
Vol 40 (2) ◽  
pp. 144-145 ◽  
Author(s):  
Annie Rambaud-Cousson ◽  
Anwar A. Dudin ◽  
Ahmad S. Zuaiter ◽  
Amin Thalji
Keyword(s):  
Type Iv ◽  
Syndactyly Type Iv

scholarly journals A syndactyly type IV locus maps to 7q36

2007 ◽  
Vol 52 (6) ◽  
pp. 561-564 ◽  
Author(s):  
Daisuke Sato ◽  
Desheng Liang ◽  
Lingqian Wu ◽  
Qian Pan ◽  
Kun Xia ◽  
...  
Keyword(s):  
Type Iv ◽  
Syndactyly Type Iv

scholarly journals A familial case of Syndactyly type IV due to a novel duplication of ~222.23 kb covering exons 2-17 of the LMBR1 gene: a case report

2018 ◽  
Author(s):  
Lijing Shi ◽  
Hui Huang ◽  
Qiuxia Jiang ◽  
Rongsen Huang ◽  
Wanyu Fu ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Clinical Phenotype ◽  
Regulatory Element ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Type Iv ◽  
Limb Malformations ◽  
Triphalangeal Thumb ◽  
Generation Sequencing ◽  
Syndactyly Type Iv

ABSTRACTSyndactyly is one of the most frequent hereditary limb malformations with clinical and genetical complexity. Autosomal dominant Syndactyly type IV (SD4) is a very rare form of syndactyly, occurring as a result of heterozygous mutation in an SHH regulatory element (ZRS) that resides in intron 5 of the LMBR1 gene on chromosome 7q36.3. The SD4 is characterized by complete cutaneous syndactyly of all fingers, cup-shaped hands due to flexion of the fingers and accompanied by polydactyly. Here, we firstly reported a big Chinese family, manifesting cup-shaped hands consistent with SD4 and intrafamilial heterogeneity in clinical phenotype of tibial and fibulal shortening, triphalangeal thumb-polysyndactyly syndrome (TPTPS). Genetically, we identified a novel duplication of ∼222.23 kb covering exons 2-17 of the LMBR1 gene in this family by next generation sequencing. This case expands our new clinical understanding of SD4 phenotype.

The LDE-Type Flare Occurrence (1969-1993)

1994 ◽  
Vol 144 ◽  
pp. 279-282
Author(s):  
A. Antalová
Keyword(s):  
Time Series ◽  
Fourier Analysis ◽  
Sunspot Cycle ◽  
List Type ◽  
Type Number ◽  
Solar Cycles ◽  
Type Iv ◽  
Long Duration ◽  
Cycle Maximum ◽  
Flare Index

AbstractThe occurrence of LDE-type flares in the last three cycles has been investigated. The Fourier analysis spectrum was calculated for the time series of the LDE-type flare occurrence during the 20-th, the 21-st and the rising part of the 22-nd cycle. LDE-type flares (Long Duration Events in SXR) are associated with the interplanetary protons (SEP and STIP as well), energized coronal archs and radio type IV emission. Generally, in all the cycles considered, LDE-type flares mainly originated during a 6-year interval of the respective cycle (2 years before and 4 years after the sunspot cycle maximum). The following significant periodicities were found:• in the 20-th cycle: 1.4, 2.1, 2.9, 4.0, 10.7 and 54.2 of month,• in the 21-st cycle: 1.2, 1.6, 2.8, 4.9, 7.8 and 44.5 of month,• in the 22-nd cycle, till March 1992: 1.4, 1.8, 2.4, 7.2, 8.7, 11.8 and 29.1 of month,• in all interval (1969-1992):a)the longer periodicities: 232.1, 121.1 (the dominant at 10.1 of year), 80.7, 61.9 and 25.6 of month,b)the shorter periodicities: 4.7, 5.0, 6.8, 7.9, 9.1, 15.8 and 20.4 of month.Fourier analysis of the LDE-type flare index (FI) yields significant peaks at 2.3 - 2.9 months and 4.2 - 4.9 months. These short periodicities correspond remarkably in the all three last solar cycles. The larger periodicities are different in respective cycles.

Labelling of non-A, non-B hepatitis infected chimpanzee hepatocytes with nuclease-gold conjugates

1984 ◽  
Vol 42 ◽  
pp. 250-251
Author(s):  
G. D. Gagne ◽  
M. F. Miller ◽  
D. A. Peterson
Keyword(s):  
Endoplasmic Reticulum ◽  
Experimental Infection ◽  
Uranyl Acetate ◽  
Type I ◽  
Cellular Injury ◽  
Type Ii ◽  
Tubular Structures ◽  
Type Iii ◽  
Type Iv ◽  
Infected Chimpanzee

Experimental infection of chimpanzees with non-A, non-B hepatitis (NANB) or with delta agent hepatitis results in the appearance of characteristic cytoplasmic alterations in the hepatocytes. These alterations include spongelike inclusions (Type I), attached convoluted membranes (Type II), tubular structures (Type III), and microtubular aggregates (Type IV) (Fig. 1). Type I, II and III structures are, by association, believed to be derived from endoplasmic reticulum and may be morphogenetically related. Type IV structures are generally observed free in the cytoplasm but sometimes in the vicinity of type III structures. It is not known whether these structures are somehow involved in the replication and/or assembly of the putative NANB virus or whether they are simply nonspecific responses to cellular injury. When treated with uranyl acetate, type I, II and III structures stain intensely as if they might contain nucleic acids. If these structures do correspond to intermediates in the replication of a virus, one might expect them to contain DNA or RNA and the present study was undertaken to explore this possibility.

Effects of EDTA, Hyaluronidase and Collagenase on Epiphyseal Cartilage Matrix

1968 ◽  
Vol 26 ◽  
pp. 56-57
Author(s):  
H. Clarke Anderson ◽  
Priscilla R. Coulter
Keyword(s):  
Light And Electron Microscopy ◽  
Matrix Vesicles ◽  
Cartilage Matrix ◽  
Collagen Fibrils ◽  
Epiphyseal Cartilage ◽  
Dense Matrix ◽  
Type Iv ◽  
Bovine Testicular Hyaluronidase ◽  
The Matrix ◽  
Testicular Hyaluronidase

Epiphyseal cartilage matrix contains fibrils and particles of at least 5 different types: 1. Banded collagen fibrils, present throughout the matrix, but not seen in the lacunae. 2. Non-periodic fine fibrils <100Å in diameter (Fig. 1), which are most notable in the lacunae, and may represent immature collagen. 3. Electron dense matrix granules (Fig. 1) which are often attached to fine fibrils and collagen fibrils, and probably contain protein-polysaccharide although the possibility of a mineral content has not been excluded. 4. Matrix vesicles (Fig. 2) which show a selective distribution throughout the epiphysis, and may play a role in calcification. 5. Needle-like apatite crystals (Fig. 2).Blocks of formalin-fixed epiphysis from weanling mice were digested with the following agents in 0.1M phosphate buffer: a) 5% ethylenediaminetetraacetate (EDTA) at pH 8.3, b) 0.015% bovine testicular hyaluronidase (Sigma, type IV, 750 units/mg) at pH 5.5, and c) 0.1% collagenase (Worthington, chromatograhically pure, 200 units/mg) at pH 7.4. All digestions were carried out at 37°C overnight. Following digestion tissues were examined by light and electron microscopy to determine changes in the various fibrils and particles of the matrix.

Fine Structure of Type IV Glycogenosis

1981 ◽  
Vol 39 ◽  
pp. 464-465
Author(s):  
P.K. Simons
Keyword(s):  
Needle Biopsy ◽  
Tissue Concentration ◽  
Inborn Errors ◽  
Rare Type ◽  
Type Iv ◽  
Iron Copper ◽  
Proper Diagnosis ◽  
Type Iv Glycogenosis ◽  
Loss Of Appetite ◽  
Enzymatic Defect

Glycogenosis is defined as any condition in which the tissue concentration of glycogen is increased. There are currently ten recognized variants of glycogenosis that are heritable inborn errors of metabolism. The specific enzymatic defect in each of the variants is known or at least suspected. In all cases, the enzymatic defect prevents the proper metabolism or formation of the glycogen molecule. The clinical and histologic differences between the types of glycogenosis is important to a proper diagnosis after the presence of such a condition is realized. This study was initiated to examine the ultrastructure of the rare Type IV Glycogenosis (Amylopectinosis) of which there is very little morphologic characterization in the literature.Liver tissue was obtained by needle biopsy from a 12-month-old Oriental female who was originally admitted to the hospital after observation of poor development, loss of appetite, and hepatomegaly. The majority of the tissue was fixed for light microscopy in neutral buffered formalin and processed using routine and special staining procedures (reticulin, trichrome, iron, copper, PAS, PAS-diastase and PAS-pectinase.

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