Advances in Human Genetics最新文献_第2页

Gaucher disease. Enzymology, genetics, and treatment. 戈谢病。酶学、遗传学和治疗。

Advances in Human Genetics Pub Date : 1993-01-01

G A Grabowski

引用次数: 0

Advances in Human Genetics Pub Date : 1993-01-01 DOI: 10.1007/978-1-4615-3010-7_2

J M Puck

引用次数: 9

Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 21-羟化酶缺乏所致先天性肾上腺增生的临床与分子遗传学。

Advances in Human Genetics Pub Date : 1991-01-01 DOI: 10.1007/978-1-4684-5958-6_1

Y Morel, W L Miller

引用次数: 163

Biochemical and molecular genetics of cystic fibrosis. 囊性纤维化的生化和分子遗传学。

Advances in Human Genetics Pub Date : 1991-01-01 DOI: 10.1007/978-1-4684-5958-6_4

L C Tsui, M Buchwald

引用次数: 85

Genetic aspects of amyloidosis. 淀粉样变的遗传方面。

Advances in Human Genetics Pub Date : 1991-01-01 DOI: 10.1007/978-1-4684-5958-6_2

D R Jacobson, J N Buxbaum

引用次数: 78

Molecular genetics of von Recklinghausen neurofibromatosis. von Recklinghausen神经纤维瘤病分子遗传学。

Advances in Human Genetics Pub Date : 1991-01-01 DOI: 10.1007/978-1-4684-5958-6_5

M R Wallace, F S Collins

引用次数: 6

Huntington's disease. 亨廷顿氏舞蹈症。

Advances in Human Genetics Pub Date : 1991-01-01

J F Gusella

引用次数: 0

Genetic aspects of immunoglobulin A deficiency. 免疫球蛋白A缺乏症的遗传方面。

Advances in Human Genetics Pub Date : 1990-01-01 DOI: 10.1007/978-1-4757-9065-8_4

C Cunningham-Rundles

{"title":"Genetic aspects of immunoglobulin A deficiency.","authors":"C Cunningham-Rundles","doi":"10.1007/978-1-4757-9065-8_4","DOIUrl":"https://doi.org/10.1007/978-1-4757-9065-8_4","url":null,"abstract":"IgA deficiency is one of the most common of all immune defects. While it is often not associated with clinical illness, presumably due to compensation from other sectors of the immune system, IgA-deficient individuals are distinctly more likely to become ill and have one or more of specific groups of diseases. While the unifying immunologic perturbation in IgA deficiency is a lack of mature IgA-secreting B cells, a host of other, usually minor, immunologic abnormalities have been reported in such patients. IgA deficiency can be inherited in an autosomal dominant or autosomal recessive fashion, but most individuals who are IgA deficient have no other affected family members. From a genetic point of view, IgA deficiency has been associated with three chromosomes, 18, 14, and 6. Many IgA-deficient individuals who have cytogenically detectable abnormalities of chromosome 18 have been reported, but all the individuals with these defects have severe congenital defects of other kinds. Obscuring the relationship between chromosome 18 and IgA deficiency is the fact that both short- and long-arm deletions have been reported in IgA deficiency. The chromosome deletions in the individuals who are IgA deficient thus appear to have no common pattern. While a rare individual can be IgA1 deficient on the basis of heavy-chain deletions of alpha 1 genes in concert with other heavy-chain genes on chromosome 14, such individuals are quite rare, and from a clinical point of view, those reported have usually been healthy. Absence of both IgA1 and IgA2 genes (presumably in concert with other heavy-chain genes) has never been reported. For chromosome 6, a more complex puzzle emerges. IgA-deficient individuals have been reported to have one of a few specific HLA haplotypes. While many individuals with these supratypes are not IgA deficient, these findings encourage the notion that the secretion of IgA could be at least partly controlled by genes residing in the major histocompatibility locus.","PeriodicalId":50952,"journal":{"name":"Advances in Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1990-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13345616","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: 20

Mutations in type I procollagen genes that cause osteogenesis imperfecta. 导致成骨不完全的I型前胶原基因突变。

Advances in Human Genetics Pub Date : 1990-01-01 DOI: 10.1007/978-1-4757-9065-8_2

D J Prockop, C T Baldwin, C D Constantinou

引用次数: 22

Structural defects in inherited and giant platelet disorders. 遗传性和巨血小板疾病的结构缺陷。

Advances in Human Genetics Pub Date : 1990-01-01 DOI: 10.1007/978-1-4757-9065-8_3

J G White

{"title":"Structural defects in inherited and giant platelet disorders.","authors":"J G White","doi":"10.1007/978-1-4757-9065-8_3","DOIUrl":"https://doi.org/10.1007/978-1-4757-9065-8_3","url":null,"abstract":"As diverse as the group of inherited structural defects and giant platelet disorders presented in this chapter may seem, there is a common thread that ties them together. All appear to represent some form of membrane aberration. Sometimes only a small inclusion identifies the membrane defect, sometimes a massive increase in size. In others, whole populations of organelles are missing or surface membranes lack specific glycoproteins essential for their function. All of them are born in the deep recesses of a hidden cell, the bone marrow megakaryocyte. Getting the megakaryocyte out into the light of day, or at least into a culture medium, should certainly lead to the solution of many, if not all, of the disorders of platelet membranes and membrane disorders. We have not been completely successful in our efforts to study the megakaryocyte in vitro. As a result, we do not yet understand the normal megakaryocyte, much less normal platelet. The megakaryocyte presents one of the greatest of challenges to our understanding of membrane biology. As our knowledge of how its cytoplasm fills with interiorly and exteriorly derived membranes, and the mechanisms underlying their organization into platelet surfaces, channels of the OCS and DTS, membrane complexes, and five kinds of organelles become clear, our ability to define the basic nature and inheritance of defects will improve rapidly. Within the next decade most aspects of platelet molecular genetics and cell biology will be solved.","PeriodicalId":50952,"journal":{"name":"Advances in Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1990-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13345615","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: 55