Acta anatomica最新文献

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Glycobiology of the olfactory system. 嗅觉系统的糖生物学。
Acta anatomica Pub Date : 1998-01-01 DOI: 10.1159/000046461
J Plendl, F Sinowatz
{"title":"Glycobiology of the olfactory system.","authors":"J Plendl,&nbsp;F Sinowatz","doi":"10.1159/000046461","DOIUrl":"https://doi.org/10.1159/000046461","url":null,"abstract":"<p><p>The olfactory system is a highly plastic region of the nervous system. Continuous remodeling of neuronal circuits in the olfactory bulb takes place throughout life as a result of constant turnover of primary sensory olfactory neurons in the periphery. Glycoconjugates are very important in olfactory development, regeneration and function. This article deals with different aspects of glycobiology relevant for the olfactory system. Various anatomical, developmental and functional subdivisions of the olfactory system have been labeled with exogenous lectins. The application of reverse lectin histochemistry resulted in the visualization of endogenous lectins, involved in fasciculation of olfactory axons. Numerous glycoproteins, among them members of the immunoglobulin superfamily, the cadherins and integrins as well as different glycolipids and proteoglycans can act as surface adhesion molecules in the olfactory system. The olfactory-specific form of the sialoglycoprotein neural cell adhesion molecule is implicated in olfactory neuronal and axonal guidance. Glycoconjugates including laminin, fibronectin and proteoglycans are abundant components of the olfactory extracellular matrix, influencing neurite outgrowth and cellular migration. Immunohistochemical labeling has revealed occurrence of the carbohydrate differentiation antigen, playing a role in neurulation and morphogenesis of the very early olfactory system. The synaptic vesicle glycoprotein, appearing also early in olfactory development, is used as a marker of olfactory tumors. Finally, membrane and transmembrane glycoconjugates as well as secreted glycoconjugates may act as olfactory receptor molecules.</p>","PeriodicalId":6885,"journal":{"name":"Acta anatomica","volume":"161 1-4","pages":"234-53"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000046461","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20692632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 67
Anatomical description and frequencies of bony projections on the cerebral aspect of the petromastoid part of the temporal bone in dry adult human skulls. 干成人颅骨颞骨岩乳突部分脑侧骨突起的解剖描述和频率。
Acta anatomica Pub Date : 1998-01-01 DOI: 10.1159/000046469
R Choudhry, A Tuli, S Choudhry, S Kakar, S Raheja
{"title":"Anatomical description and frequencies of bony projections on the cerebral aspect of the petromastoid part of the temporal bone in dry adult human skulls.","authors":"R Choudhry,&nbsp;A Tuli,&nbsp;S Choudhry,&nbsp;S Kakar,&nbsp;S Raheja","doi":"10.1159/000046469","DOIUrl":"https://doi.org/10.1159/000046469","url":null,"abstract":"<p><p>A morphological peculiarity was observed in the form of bony projections on the upper part of the medial border of the groove for the sigmoid sulcus on the internal surface of the mastoid part of the temporal bones. In a study on 636 temporal regions of 318 dry unsexed adult human skulls of Indian origin, 101 (15.9%) temporal bones exhibited these elevations. These ranged from being inconspicuous tubercles to well-defined sharp spines. In 73 (72.3%) cases, a projection was present unilaterally, more commonly on the right side and in 28 (27.7%) it was bilateral. A subjective assessment of the size showed the projections to be small (70; 69.3%), medium (16; 15.8%) and large (15; 14.8%).</p>","PeriodicalId":6885,"journal":{"name":"Acta anatomica","volume":"162 1","pages":"56-60"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000046469","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20701322","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Hereditary dominance of fast-twitch fibers in skeletal muscles and relation of thyroid hormone under physiological conditions in rats. 生理条件下大鼠骨骼肌快肌纤维的遗传优势与甲状腺激素的关系。
Acta anatomica Pub Date : 1998-01-01 DOI: 10.1159/000046467
M Suwa, T Miyazaki, T Nakamura, S Sasaki, H Ohmori, S Katsuta
{"title":"Hereditary dominance of fast-twitch fibers in skeletal muscles and relation of thyroid hormone under physiological conditions in rats.","authors":"M Suwa,&nbsp;T Miyazaki,&nbsp;T Nakamura,&nbsp;S Sasaki,&nbsp;H Ohmori,&nbsp;S Katsuta","doi":"10.1159/000046467","DOIUrl":"https://doi.org/10.1159/000046467","url":null,"abstract":"<p><p>To investigate whether muscle fiber compositions of various skeletal muscles were correlated with each other and whether muscle fiber type composition was related to the serum thyroid hormone level, fast-twitch fiber dominant rats (FFDR), which had a higher percentage of fast-twitch (FT) fibers in the deep portion of the lateral head of the gastrocnemius muscle (GAS), were compared to a control group. The FFDR group was obtained by the selective breeding for high-percentage FT fibers in the GAS, and the control group was obtained by random breeding from the same base population. The percentages of FT fibers of the GAS, soleus (SOL), vastus intermedius (VI), biceps brachii (BB), rectus abdominis (RA) and extensor digitorum longus (EDL) muscles were analyzed. The percentages of FT fibers of the GAS, SOL, VI and BB in the FFDR group were significantly higher than in the control group (p<0.05), and percent FT fibers of the GAS were significantly correlated with those of the SOL (r = 0.62, p<0.01), VI (r = 0.45, p <0.05) and BB (r = 0.43, p<0.05). On the other hand, no significant differences between FFDR and the control group and no significant correlations with the GAS were observed in percent FT fibers of the RA and EDL. The total 3,3',5-triiodo-L-thyronine (T3) level in FFDR was not significantly different from the control group and was not significantly correlated with the percentage of FT fibers. These data suggest that the percentages of FT fibers of various skeletal muscles are genetically correlated with each other, but some FT muscles are not because they might be close to the upper limits of the genetic adaptive range. In addition, percentages of FT fibers are independent of the total T3 level under physiological conditions.</p>","PeriodicalId":6885,"journal":{"name":"Acta anatomica","volume":"162 1","pages":"40-5"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000046467","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20701429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 12
The Royal College of Surgeons rat: an animal model for inherited retinal degeneration with a still unknown genetic defect. 英国皇家外科医学院大鼠:一种带有未知遗传缺陷的遗传性视网膜变性动物模型。
Acta anatomica Pub Date : 1998-01-01 DOI: 10.1159/000046474
O Strauss, F Stumpff, S Mergler, M Wienrich, M Wiederholt
{"title":"The Royal College of Surgeons rat: an animal model for inherited retinal degeneration with a still unknown genetic defect.","authors":"O Strauss,&nbsp;F Stumpff,&nbsp;S Mergler,&nbsp;M Wienrich,&nbsp;M Wiederholt","doi":"10.1159/000046474","DOIUrl":"https://doi.org/10.1159/000046474","url":null,"abstract":"<p><p>The Royal College of Surgeons (RCS) rat is the first known animal with inherited retinal degeneration. Despite the fact that the genetic defect is not known, the RCS rat is widely used for research in hereditary retinal dystrophies. This review tries to summarize observations which have been made in the RCS rat and to make an attempt to formulate candidate genes which may the cause for the retinal degeneration in this rat strain. The genetic defect in RCS rats causes the inability of the retinal pigment epithelium (RPE) to phagocytose shed photoreceptor outer segments. In normal rats or humans, this circadian process is regulated by both the cyclic adenosine monophosphate (cAMP) and the calcium/ inositol phosphate systems. The calcium/inositol phosphate system seems to be linked to the phagocytosis receptors which recognize photoreceptor outer membranes to initialize phagocytosis. The cAMP system appeared as modulator of the regulation of phagocytosis. An increase in the intracellular cAMP concentration is an 'off' signal for phagocytosis. In RPE cells from RCS rats many observations have been made which indicate a changed second messenger metabolism concerning both the cAMP and the calcium/inositol phosphate systems. The genetic defect seems to concern a protein which is involved in the initialization of a second messenger pathway. We conclude that the genes coding for the phagocytosis receptor or for proteins which are linked to receptors (for example G proteins) are good candidates for defective genes in RCS rats.</p>","PeriodicalId":6885,"journal":{"name":"Acta anatomica","volume":"162 2-3","pages":"101-11"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000046474","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20742866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 89
Serine/threonine protein phosphatases type 1, 2A and 2C in vertebrate retinae. 脊椎动物视网膜中1,2a和2C型丝氨酸/苏氨酸蛋白磷酸酶。
Acta anatomica Pub Date : 1998-01-01 DOI: 10.1159/000046480
D Selke, H Anton, S Klumpp
{"title":"Serine/threonine protein phosphatases type 1, 2A and 2C in vertebrate retinae.","authors":"D Selke,&nbsp;H Anton,&nbsp;S Klumpp","doi":"10.1159/000046480","DOIUrl":"https://doi.org/10.1159/000046480","url":null,"abstract":"<p><p>A number of retinal proteins are phosphorylated by a variety of kinases, resulting in well-known regulatory effects. The identity and role of corresponding phosphatases is less clear. We simultaneously measured the activity of serine/ threonine protein phosphatases type 1, 2A and 2C in bovine retinae. The enzymes were classified according to substrate specificity, divalent cation requirement and the effect of phosphatase subtype-specific inhibitors. The total- and specific activity of phosphatase type 2A was prevalent. Type 2C was 10-fold less abundant. 80% of type 1 and 50% of type 2A and type 2C, respectively, were soluble. An economic purification scheme was developed. We demonstrated the presence of phosphatase isozymes 2Calpha and 2Cbeta in bovine rod outer segments by enzymatic analysis as well as immunological techniques. The results suggest a yet unknown role of phosphatase type 2C in phototransduction. On the other hand, the immense amount of protein phosphatases found to be soluble - therefore not associated with rod outer segment membranes - points towards participation of these enzymes in the process of visual transduction not considered thus far.</p>","PeriodicalId":6885,"journal":{"name":"Acta anatomica","volume":"162 2-3","pages":"151-6"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000046480","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20743367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 7
Distribution and cytological properties of macrophages in human Fallopian tubes. 人输卵管巨噬细胞的分布及细胞学特性。
Acta anatomica Pub Date : 1998-01-01 DOI: 10.1159/000046441
Y Suenaga, H Katabuchi, Y Fukumatsu, H Okamura
{"title":"Distribution and cytological properties of macrophages in human Fallopian tubes.","authors":"Y Suenaga,&nbsp;H Katabuchi,&nbsp;Y Fukumatsu,&nbsp;H Okamura","doi":"10.1159/000046441","DOIUrl":"https://doi.org/10.1159/000046441","url":null,"abstract":"<p><p>The macrophages in human Fallopian tubes of women in the reproductive and postmenopausal periods were examined with a focus on their morphological properties by immunohistochemical staining and transmission electron microscopy. The fine structure of the smooth muscle cells in the Fallopian tubes was also investigated during the reproductive period. For immunohistochemical staining, we used two monoclonal antibodies that were specific for human macrophages, namely PM-1K and PM-2K. PM-1K recognizes human monocytes/ macrophages corresponding to CD68, and PM-2K recognizes tissue macrophages. PM-1K-positive cells were always present and their numbers increased significantly during the menstrual and early to mid-secretory phases. In contrast, relative numbers of PM-2K-positive cells were small throughout the menstrual cycle. In the postmenopausal period, few PM-1K-positive cells were detected, but PM-2K-positive cells remained. The macrophages during the secretory phase in the endosalpingeal stroma had well-developed intracytoplasmic organelles, but relatively few cytoplasmic vacuoles and granules. In the same phase, many cells of the monocyte/macrophage lineage appeared in the vascular lumen of the endosalpingeal stroma. The macrophages during the menstrual phase had well-developed intracellular organelles, with cytoplasmic vacuoles and granules of various sizes and configurations. During the late secretory phase, just prior to menstruation, the smooth muscle cells contained few cytoplasmic filaments but electron-lucent or electron-dense lysosome-like bodies were seen. These findings suggested the presence of macrophages in human Fallopian tubes. It is possible that such macrophages might be involved in the physiological functions of the tubes during the reproductive period and moreover that they might participate in the reconstruction of the muscle layer of the tubes.</p>","PeriodicalId":6885,"journal":{"name":"Acta anatomica","volume":"163 1","pages":"10-9"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000046441","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20761633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 10
A mechanism for anterior transposition of the anal fin and its appendicular support in the western mosquitofish, gambusia affinis affinis 西蚊鱼(gambusia affinis affinis)肛鳍前移位及其附件支撑的机制
Acta anatomica Pub Date : 1998-01-01
Rosa-Molinar, Proskocil, Hendricks, Fritzsch
{"title":"A mechanism for anterior transposition of the anal fin and its appendicular support in the western mosquitofish, gambusia affinis affinis","authors":"Rosa-Molinar,&nbsp;Proskocil,&nbsp;Hendricks,&nbsp;Fritzsch","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The interosseal and suspensory ligaments of the axial and appendicular skeleton of the Western Mosquitofish, Gambusia affinis affinis were investigated in whole-mounted late embryonic and adult female and male G. a. affinis stained with alcian blue and alizarin red S, cleared, and viewed using differential interference contrast. The interosseal and suspensory ligaments of late embryonic female G. a. affinis are reduced prior to sexual differentiation and continue reduced in adult females. However, in late embryonic male G. a. affinis the interosseal and suspensory ligaments are well developed prior to sexual differentiation and become robust in adult males. Treating late embryonic female G. a. affinis with either 30.0 or 40. 0 &mgr;g/ diet of 17alpha-methyltestosterone led to the premature calcification of the hemal spine of the 13th vertebra. Treating late embryonic female G. a. affinis with 17alpha-methyltestosterone did not lead to the remodeling of the hemal spines of the 14th-16th vertebrae. Thus, in all female G. a. affinis treated with 17alpha-methyltestosterone, no anterior transposition of the anal fin and its appendicular support was observed. However, treating late embryonic male G. a. affinis with 30.0 &mgr;g/g diet of 17alpha-methyltestosterone led to the premature calcification of the hemal spine of the 13th vertebra, blocking the anterior transposition in only 62.5% of the males treated, and treating late embryonic male G. a. affinis with 40.0 &mgr;g/g diet of 17alpha-methyltestosterone led to the premature calcification of the hemal spine of the 13th vertebra, blocking the anterior transposition in all (100.0%) males treated. Treatment with either 30.0 or 40.0 &mgr;g/g diet of 17alpha-methyltestosterone appeared not to completely effect the interosseal and suspensory ligaments of late embryonic male G.a. affinis as evident by the male-specific remodeling of the hemal spines of the 14th-16th vertebrae. The results of this study implicate the interosseal and suspensory ligaments in the male-specific remodeling of the axial and appendicular skeletal elements. Following the resorption of the 13th hemal spine, the interosseal and suspensory ligaments in late embryonic male G. a. affinis develop enough tension to cause directional growth, bending, and elongation of the 14th-16th hemal spines, thus providing a mechanism for the anterior transposition of the sexually dimorphic anal fin and its appendicular support. The data also support the need to revise the interosseal and suspensory ligament nomenclature by assigning the designation of 'female' and 'male' to these ligaments.</p>","PeriodicalId":6885,"journal":{"name":"Acta anatomica","volume":"163 2","pages":"75-91"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20780617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Golgi and electron-microscopic golgi-GABA immunostaining study of the avian optic tectum. 高尔基体及高尔基-氨基丁酸免疫染色对禽类视神经顶盖的电镜研究。
Acta anatomica Pub Date : 1998-01-01 DOI: 10.1159/000046436
T Tömböl
{"title":"Golgi and electron-microscopic golgi-GABA immunostaining study of the avian optic tectum.","authors":"T Tömböl","doi":"10.1159/000046436","DOIUrl":"https://doi.org/10.1159/000046436","url":null,"abstract":"<p><p>The neuronal structures and their possible connections in the optic tectum of chicks were studied by using Golgi impregnation, in light microscopy, and Golgi-GABA immunogold staining in electron microscopy. The terminals of the optic fibers displayed different patterns and orientation in various laminae of the avian optic tectum. The shape of the branching and the terminals of the optic fibers conformed to the postsynaptic neuronal structures. In Golgi preparations, the terminals in tectal layers 4 and 5 seemed to be located rather densely, and they contact, among other things, the 'dendritic terminal sections' of large ganglion cells of layer 13 of the tectum. This connection could be responsible for direct optic transmission via ganglion cells to the nucleus rotundus. Additionally, the contacts established by optic terminals in these layers with the tectal neurons arranged with their dendrites parallel to the surface of the tectum, could provide the structural basis for an inhibitory system. The terminals of isthmic nuclei were found in this optic lamina, too. The optic terminals in layer 7 contacted the dendritic side branches of some radial tectal neurons.</p>","PeriodicalId":6885,"journal":{"name":"Acta anatomica","volume":"162 4","pages":"209-25"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000046436","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20742712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 24
Variation in the branching of the axillary artery. A description of a rare case. 腋窝动脉分支的变化。对一个罕见案例的描述。
Acta anatomica Pub Date : 1998-01-01 DOI: 10.1159/000046439
I Kogan, D Lewinson
{"title":"Variation in the branching of the axillary artery. A description of a rare case.","authors":"I Kogan,&nbsp;D Lewinson","doi":"10.1159/000046439","DOIUrl":"https://doi.org/10.1159/000046439","url":null,"abstract":"<p><p>A case is described in which a rare variation of a branch arising from the axillary artery is defined as a thoracoepigastric artery. This variation was observed in the cadaver of a 72-year-old man. This artery branched from the axillary artery, passing as a common trunk between the roots of the median nerve, and divided into two branches. The lateral one gave rise to muscular branches supplying the shoulder and fasciae, while the medial one descended on the anterior aspect of the axillary fossa, reaching the hypogastric region, and anastomosed with the superficial epigastric artery, which is a branch of the femoral artery. To our best knowledge, no variation similar to this one has been described. We suggest naming this artery the thoracoepigastric artery.</p>","PeriodicalId":6885,"journal":{"name":"Acta anatomica","volume":"162 4","pages":"238-40"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000046439","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20742715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 14
Molecular dissection of Norrie disease. 诺里病的分子解剖。
Acta anatomica Pub Date : 1998-01-01 DOI: 10.1159/000046473
W Berger
{"title":"Molecular dissection of Norrie disease.","authors":"W Berger","doi":"10.1159/000046473","DOIUrl":"https://doi.org/10.1159/000046473","url":null,"abstract":"<p><p>Norrie disease (ND) is a severe form of congenital blindness accompanied by mental retardation and/or deafness in at least one third of the patients. This article summarizes advances in the molecular genetic analysis of this disease during the last 13 years, including mapping and cloning of the human gene and the generation and characterization of a mouse model. Genetic linkage studies and physical mapping strategies have assigned the ND locus to the proximal short arm of the human X chromosome. The identification of chromosomal rearrangements in several patients, such as microdeletions, enabled the isolation of the ND gene by a positional cloning approach. Numerous point mutations in this gene have been identified in three distinct clinical entities: (1) ND, (2) familial and sporadic exudative vitreoretinopathy, and (3) retinopathy of prematurity. The gene encodes a relatively small protein, consisting of 133 amino acids. The function of the gene product is yet unknown, although homologies with known proteins and molecular modelling data suggest a role in the regulation of cell interaction or differentiation processes. A mouse model has been generated to shed more light on early pathogenic events involved in ND and allelic disorders. The mouse homologous protein is highly identical (94%) to the human polypeptide. The gene is expressed in the neuronal layers of the mouse retina, the cerebellum and olfactory epithelium. Mutant mice show snowflake-like opacities within the vitreous, dysgenesis of the ganglion cell layer and occasionally degeneration of photoreceptor cells. The mouse phenotype does not include phthisis bulbi and, overall, resembles a mild form of ND. Electrophysiological studies revealed a severely altered electroretinogram b-wave. These results suggest a primary defect in the inner neuronal layers of the retina. Defects in the vitreous and photoreceptor cell layer are most likely secondary effects. Further histological, functional and molecular studies of the mouse model are needed to provide additional information on disease associated pathways.</p>","PeriodicalId":6885,"journal":{"name":"Acta anatomica","volume":"162 2-3","pages":"95-100"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000046473","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20742865","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 56
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