Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene

Human Molecular Genetics

Volumn 22, Issue 18, 2013, Pages 3654-3666

  Esposito, Teresa ^a   Lea, Rod A ^b   Maher, Bridget H ^b   Moses, Dianne ^b   Cox, Hannah C ^b   Magliocca, Sara ^a   Angius, Andrea ^c   Nyholt, Dale R ^d   Titus, Thomas ^e   Kay, Troy ^e   Gray, Nicholas A ^f   Rastaldi, Maria P ^g   Parnham, Alan ^e   Gianfrancesco, Fernando ^a   Griffiths, Lyn R ^b  

^a INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^b GRIFFITH UNIVERSITY   (Australia)

^c Milan Unit   (Italy)

^d QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^e GOLD COAST UNIVERSITY HOSPITAL   (Australia)

^f NAMBOUR GENERAL HOSPITAL   (Australia)

^g FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ACTININ 4; CD2 ASSOCIATED PROTEIN; IMMUNOGLOBULIN A; METHENAMINE; MYOSIN I; PODOCIN; TRANSIENT RECEPTOR POTENTIAL CHANNEL 6;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ADULT; ANIMAL CELL; ARTICLE; ARTIFICIAL HEART PACEMAKER; ASPARAGINE LINKED GLYCOSYLATION 13 GENE; AUSTRALIA; BIOINFORMATICS; CELLULAR DISTRIBUTION; CHROMOSOME 11; CODON; COMPLETE HEART BLOCK; CONTROLLED STUDY; DEATH CERTIFICATE; ECHOCARDIOGRAPHY; ELECTRON MICROSCOPY; EXOME; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; FIBROSING ALVEOLITIS; FOCAL GLOMERULOSCLEROSIS; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC LINKAGE; GLOMERULOSCLEROSIS; HAPLOTYPE; HEART BLOCK; HEART HYPERTROPHY; HEART MUSCLE CONDUCTION DISTURBANCE; HEMATURIA; HEMODIALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HYPERTENSION; IMMUNE COMPLEX DEPOSITION; IMMUNOFLUORESCENCE; INDEL MUTATION; KIDNEY BIOPSY; KIDNEY CARCINOMA; KIDNEY CYST; KIDNEY FAILURE; KIDNEY FUNCTION; KIDNEY GRAFT; KIDNEY PELVIS CARCINOMA; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD; MESANGIUM; MOUSE; MUTATOR GENE; NONHUMAN; NUCLEAR EXPORT SIGNAL; NUCLEAR RNA EXPORT FACTOR 5 GENE; NUCLEOTIDE SEQUENCE; OBESITY; PACEMAKER FAILURE; PEDIGREE; PERITONEAL DIALYSIS; PHENOTYPE; PODOCYTE; PREECLAMPSIA; PRIORITY JOURNAL; PROSTATE CARCINOMA; PROTEIN GLYCOSYLATION; PROTEINURIA; SLEEP DISORDERED BREATHING; TRANSITIONAL CELL CARCINOMA; X CHROMOSOME; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ANIMALS; AUSTRALIA; CHILD; CHILD, PRESCHOOL; EXOME; FEMALE; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; GENETIC LINKAGE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HEART BLOCK; HEK293 CELLS; HUMANS; MALE; MICE; MIDDLE AGED; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; NUCLEOCYTOPLASMIC TRANSPORT PROTEINS; ORGAN SPECIFICITY; PEDIGREE; RNA-BINDING PROTEINS; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84882932882     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt215     Document Type: Article

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