A
Arno Fuchshuber
Researcher at Boston Children's Hospital
Publications - 31
Citations - 3063
Arno Fuchshuber is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Nephrotic syndrome & Locus (genetics). The author has an hindex of 21, co-authored 31 publications receiving 2957 citations. Previous affiliations of Arno Fuchshuber include French Institute of Health and Medical Research & The Cyprus Institute of Neurology and Genetics.
Papers
More filters
Journal ArticleDOI
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
Nicolas Boute,Olivier Gribouval,Séverine Roselli,Hyunjoo Jean Lee,Arno Fuchshuber,Karin Dahan,Marie-Claire Gubler,Patrick Niaudet,Corinne Antignac +8 more
TL;DR: It is found that ten different NPHS2 mutations, comprising nonsense, frameshift and missense mutations, to segregate with the disease, demonstrating a crucial role for podocin in the function of the glomerular filtration barrier.
Journal ArticleDOI
Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.
Rainer G. Ruf,Anne Lichtenberger,Stephanie M. Karle,Johannes P. Haas,Franzisco E Anacleto,Michael Schultheiss,Isabella Zalewski,Anita Imm,Eva-Maria Ruf,Bettina E. Mucha,Arvind Bagga,Thomas J. Neuhaus,Arno Fuchshuber,Aysin Bakkaloglu,Friedhelm Hildebrandt +14 more
TL;DR: It was concluded that patients with SRNS with homozygous or compound heterozygous mutations in NPHS2 do not respond to standard steroid treatment and have a reduced risk for recurrence of FSGS in a renal transplant.
Journal ArticleDOI
Novel Mutations in NPHS2 Detected in Both Familial and Sporadic Steroid-Resistant Nephrotic Syndrome
Stephanie M. Karle,Barbara Uetz,Vera Ronner,Lisa Glaeser,Friedhelm Hildebrandt,Arno Fuchshuber +5 more
TL;DR: Identification of NPHS2 mutations may save some of these patients from unnecessary steroid treatment and also permit the prediction of absence of disease recurrence after kidney transplantation.
Journal ArticleDOI
Mapping a gene (SRN1) to chromosome 1q25–q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis
Arno Fuchshuber,Geneviève Jean,Olivler Gribouval,Marie-Claire Gubler,Michel Broyer,Michel Broyer,Jacques S. Beckmann,Patrick Niaudet,Patrick Niaudet,Corinne Antignac +9 more
TL;DR: The results allowed us to assign a disease locus (SRN1) to a defined chromosomal region on 1q25-1q31, thus confirming the existence of a distinct entity of autosomal recessive nephrosis, and exclusion of linkage to the entire region in one family proves genetic heterogeneity.
Journal ArticleDOI
Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome
Rainer G. Ruf,Michael Schultheiss,Anne Lichtenberger,Stephanie M. Karle,Isabella Zalewski,Bettina E. Mucha,Anne Schulze Everding,Thomas Neuhaus,Ludwig Patzer,Christian Plank,Johannes P. Haas,Fatih Ozaltin,Anita Imm,Arno Fuchshuber,Aysin Bakkaloglu,Friedhelm Hildebrandt +15 more
TL;DR: Patients presenting with a female phenotype and SRNS and male patients presenting with genital abnormalities should especially be screened to take advantage of the important genetic information on potential Wilms' tumor risk and differential therapy.