Journal ArticleDOI
Modifier genes in cystic fibrosis lung disease.
TLDR
It is now clear that CFTR genotype alone does not account for the wide diversity in CF pulmonary phenotype and evidence is accumulating that secondary genetic factors separate from the CFTR locus significantly influence the severity of CF lung disease.About:
This article is published in Journal of Laboratory and Clinical Medicine.The article was published on 2003-04-01. It has received 87 citations till now. The article focuses on the topics: Cystic fibrosis & Cystic fibrosis transmembrane conductance regulator.read more
Citations
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Cystic Fibrosis
TL;DR: Advances in understanding and treatment of cystic fibrosis are summarized, focusing on pulmonary disease, which accounts for most morbidity and deaths.
Journal ArticleDOI
Cystic fibrosis since 1938.
TL;DR: Cystic fibrosis (CF) was distinguished from celiac disease in 1938 as mentioned in this paper and was considered a pathologic diagnosis, life expectancy was approximately 6 months, and the autosomal recessive disease was believed to arise from abnormal mucus plugging exocrine ducts.
Journal ArticleDOI
Uncovering cryptic genetic variation.
Greg Gibson,Ian Dworkin +1 more
TL;DR: It is argued that cryptic genetic variation is pervasive but under-appreciated, recent progress in determining the nature and identity of genes that underlie cryptic genetic effects is highlighted, and future research directions are outlined.
Book
Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment
TL;DR: The definitive reference work on prenatal diagnosis, Genetic Disorders and the Fetus is now available in a completely revised and updated fifth edition reflecting the most current advances in research, technology, and clinical care.
Journal ArticleDOI
Genetics of Schizophrenia: New Findings and Challenges
TL;DR: The aggregate data increasingly support a combination of rare and common genetic variation in schizophrenia, a major role for polygenic inheritance, and a genetic overlap of schizophrenia and other psychiatric disorders, such as bipolar disorder and autism.
References
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Journal ArticleDOI
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
John R. Riordan,Johanna M. Rommens,Batsheva Kerem,Noa Alon,Richard Rozmahel,Zbyszko Grzelczak,Julian Zielenski,Si Lok,Natasa Plavsic,Jia Ling Chou,Mitchell L. Drumm,Michael C. Iannuzzi,Francis S. Collins,Lap-Chee Tsui +13 more
TL;DR: A deletion of three base pairs that results in the omission of a phenylalanine residue at the center of the first predicted nucleotide-binding domain was detected in CF patients.
Journal ArticleDOI
Identification of the cystic fibrosis gene: genetic analysis.
Batsheva Kerem,Johanna M. Rommens,Janet A. Buchanan,Danuta Markiewicz,Tara K. Cox,Aravinda Chakravarti,Manuel Buchwald,Lap-Chee Tsui +7 more
TL;DR: Extended haplotype data based on DNA markers closely linked to the putative disease gene locus suggest that the remainder of the cystic fibrosis mutant gene pool consists of multiple, different mutations.
Journal ArticleDOI
Transforming growth factor-beta stimulates the expression of fibronectin and collagen and their incorporation into the extracellular matrix.
Ronald A. Ignotz,Joan Massagué +1 more
TL;DR: The results demonstrate a functional involvement of fibronectin in mediating cellular responses to TGFbeta, and suggest a model for TGF beta action based on the control of the extracellular matrix in target cells.
Journal ArticleDOI
The −308 tumor necrosis factor-α promoter polymorphism effects transcription
TL;DR: It is demonstrated that the region (−323 to −285) encompassing −308 in the TNF2 allele binds nuclear factors differently to the same region in the promoter of the more common TNF1 allele, suggesting that the −308 GA polymorphism may play a role in the altered TNF-α gene expression observed in individuals with the HLA Al, B8, DR3 haplotype.
Journal ArticleDOI
Amino-terminal polymorphisms of the human beta 2-adrenergic receptor impart distinct agonist-promoted regulatory properties.
TL;DR: Three naturally occurring polymorphisms of the human beta 2-adrenergic receptor caused by missense mutations encoding for amino acids 16 and 27 of the extracellular N-terminus of the receptor are delineated and the functional consequences of these polymorphisms by site-directed mutagenesis and the recombinant expression of these receptors in Chinese hamster fibroblasts are studied.
Related Papers (5)
Genetic Modifiers of Lung Disease in Cystic Fibrosis
Mitchell L. Drumm,Michael W. Konstan,Mark D. Schluchter,Allison Handler,Rhonda G. Pace,Fei Zou,Maimoona A. Zariwala,David C. Fargo,Airong Xu,John M. Dunn,Rebecca J. Darrah,Ruslan Dorfman,Andrew J. Sandford,Mary Corey,Julian Zielenski,Peter R. Durie,Katrina A.B. Goddard,James R. Yankaskas,Fred A. Wright,Michael R. Knowles +19 more