TITLE

Novel antibody switching defects in human patients

AUTHOR(S)
Manis, John P.; Alt, Frederick W.
PUB. DATE
July 2003
SOURCE
Journal of Clinical Investigation;7/1/2003, Vol. 112 Issue 1, p19
SOURCE TYPE
Academic Journal
DOC. TYPE
journal article
ABSTRACT
Comments on a study which characterized hyper-immunoglobulin M syndrome (HIGM) type 4, a defect in antibody gene diversification caused by a selective block in class-switch recombination (CSR). Background to HIGM; Difference between CSR and somatic hypermutation defects; Factors involved in differential processing and repair.
ACCESSION #
10259689

 

Related Articles

  • Genetic insights into schizophrenia. Bassett, Anne S; Bassett, A S; Chow, E W; Waterworth, D M; Brzustowicz, L // Canadian Journal of Psychiatry;Mar2001, Vol. 46 Issue 2, p131 

    Objective: To outline new insights into the genetic etiology of schizophrenia. Methods: We discuss several commonly held beliefs about the genetic issues in schizophrenia. Results: The complex genetic nature of the illness poses a challenge for...

  • A novel mutation in a patient with Werner's syndrome. Nakayama, Tomohiro; Ochiai, Toyoko; Takahashi, Yoshiko; Ohkubo, Kimie; Hironaga, Takashi; Kokubun, Shinichiro // Gerontology;2002, Vol. 48 Issue 4, p215 

    Background: Werner's syndrome, a rare autosomal recessive disorder, is characterized by features of premature aging. Seventy-five percent of the alleles of Japanese patients with Werner's syndrome have one of three major mutations.Objective: To determine the genotype of...

  • Genetics of Alzheimer's disease. Some molecular understanding of a diverse phenotype. St Clair, David; St Clair, D // British Journal of Psychiatry;Feb94, Vol. 164, p153 

    The article comments that genetic susceptibility and patients with Down's syndrome are at high risk for Alzheimer's disease. Genetics may be a necessary but insufficient cause of the disease. The analysis of patterns of familial clustering may be explained by transmission of autosomal dominant...

  • A nonsense mutation of IDH1 in myelodysplastic syndromes and related disorders. Yoshida, K.; Sanada, M.; Kato, M.; Kawahata, R.; Matsubara, A.; Takita, J.; Shih, L.-Y.; Mori, H.; Koeffler, H. P.; Ogawa, S. // Leukemia (08876924);Jan2011, Vol. 25 Issue 1, p184 

    A letter to the editor is presented regarding the mutations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) in a series of cases with myelodysplastic syndrome (MDS).

  • Proteolytic processing of dynamin by cytoplasmic cathepsin L is a mechanism for proteinuric kidney disease. Sever, Sanja; Altintas, Mehmet M.; Nankoe, Sharif R.; Möller, Clemens C.; David Ko; Changli Wei; Henderson, Joel; del Re, Elizabetta C.; Lianne Hsing; Erickson, Ann; Cohen, Clemens D.; Kretzler, Matthias; Kerjaschki, Dontscho; Rudensky, Alexander; Nikolic, Boris; Reiser, Jochen; Möller, Clemens C; Ko, David; Wei, Changli; Hsing, Lianne // Journal of Clinical Investigation;Aug2007, Vol. 117 Issue 8, p2095 

    Kidney podocytes and their foot processes maintain the ultrafiltration barrier and prevent urinary protein loss (proteinuria). Here we show that the GTPase dynamin is essential for podocyte function. During proteinuric kidney disease, induction of cytoplasmic cathepsin L leads to cleavage of...

  • A new RHD variant allele in Exon 2 identified in a Chinese individual. Zhu, Yuli; Feng, Zhihui; Lyu, Hongjuan; Jiao, Shuxian; Hu, Bin // Transfusion;Feb2019, Vol. 59 Issue 2, p791 

    The article offers information on the a molecular genetic study of a Chinese blood donor who was identified with a new mutation in the RHD gene in in Exon 2 and proved to have D-negative blood type by serologic testing. Polymerase chain reaction–sequence specific primer analysis displayed...

  • NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis. Wajid, Muhammad; Kurban, Mazen; Shimomura, Yutaka; Christiano, Angela M. // Dermatology (10188665);Jan2010, Vol. 220 Issue 1, p8 

    Background: Autosomal recessive congenital ichthyosis (ARCI) can be divided into 3 types including lamellar ichthyosis (OMIM 242304), nonbullous congenital ichthyosiform erythroderma (OMIM 242100) and harlequin ichthyosis (OMIM 242500). The last type is uncommon since newborns with...

  • CONSANGUINITY AND HOMOZYGOSITY AMONG TUNISIAN PATIENTS WITH AN AUTOSOMAL RECESSIVE DISORDER. KELMEMI, WIDED; CHELLY, IMENE; KHARRAT, MAHER; CHAABOUNI-BOUHAMED, HABIBA // Journal of Biosocial Science;Nov2015, Vol. 47 Issue 6, p718 

    Consanguineous unions are a deeply rooted social practice among traditional societies. Despite their presumed social advantages, they can result in several health conditions. The aim of this study was: i) to compare consanguinity levels between Tunisian patients affected with autosomal recessive...

  • Mice overexpressing BAFF develop a commensal flora-dependent, IgA-associated nephropathy. McCarthy, Douglas D.; Kujawa, Julie; Wilson, Cheryl; Papandile, Adrian; Poreci, Urjana; Porfilio, Elisa A.; Ward, Lesley; Lawson, Melissa A.E.; Macpherson, Andrew J.; McCoy, Kathy D.; Pei, York; Novak, Lea; Lee, Jeannette Y.; Julian, Bruce A.; Novak, Jan; Ranger, Ann; Gommerman, Jennifer L.; Browning, Jeffrey L. // Journal of Clinical Investigation;Oct2011, Vol. 121 Issue 10, p3991 

    B cell activation factor of the TNF family (BAFF) is a potent B cell survival factor. BAFF overexpressing transgenic mice (BAFF-Tg mice) exhibit features of autoimmune disease, including B cell hyperplasia and hypergammaglobulinemia, and develop fatal nephritis with age. However, basal serum IgA...

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics