22 Result(s)

Chapter

Einleitung

Molekulargenetische Zufallsbefunde stellen ein Problemfeld dar, dessen normative Brisanz angesichts aktueller Entwicklungen in medizinischer Forschung und Versorgung kaum zu übersehen ist. Denn wo – etwa einge...

Martin Langanke, Pia Erdmann… in Zufallsbefunde bei molekulargenetischen Un… (2015)

Chapter

Umgang mit Zusatzbefunden in der humangenetischen Praxis

Die Zahl von Zusatzbefunden und die Intensität der Diskussion um ihre Bedeutung haben mit der Entwicklung hochauflösender bzw. gesamtgenomischer Analyseverfahren erheblich zugenommen und stellen die verantwort...

Sabine Rudnik-Schöneborn in Zufallsbefunde bei molekulargenetischen Untersuchungen (2015)

Article

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Jaonna Jen and colleagues identify mutations in EXOSC3, encoding a core RNA exosome component, causing pontocerebellar hypoplasia type 1 (PCH1), a recessive disorder with heterogeneous defects in brain developmen...

Jijun Wan, Michael Yourshaw, Hafsa Mamsa, Sabine Rudnik-Schöneborn… in Nature Genetics (2012)

Article

Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy and usually follows an autosomal dominant trait. Clinically, FSHD affects facial muscles and proximal upper limb and gi...

Peter Reilich, Nicolai Schramm, Benedikt Schoser, Peter Schneiderat… in Journal of Neurology (2010)

Reference Work Entry In depth

Muscular Atrophy, Spinal I–III

Klaus Zerres, Sabine Rudnik-Schöneborn in Encyclopedia of Molecular Mechanisms of Disease (2009)

Article

Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy

The molecular basis of autosomal dominant spinal muscular atrophy (AD-SMA) is largely unknown. Because the phenotypic spectrum of diseases caused by LMNA mutations is extremely broad and includes myopathies, neur...

Sabine Rudnik-Schöneborn, Elke Botzenhart, Thomas Eggermann, Jan Senderek… in Neurogenetics (2007)

Article

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

SIL1 (also called BAP) acts as a nucleotide exchange factor for the Hsp70 chaperone BiP (also called GRP78), which is a key regulator of the main functions of the endoplasmic reticulum. We found nine distinct ...

Jan Senderek, Michael Krieger, Claudia Stendel, Carsten Bergmann… in Nature Genetics (2005)

Article

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1

Proximal spinal muscular atrophy (SMA) is a neuromuscular disorder caused by homozygous mutations of the SMN1 gene. SMN1 interacts with multiple proteins with functions in snRNP biogenesis, pre-mRNA splicing and ...

Claudia Helmken, Yvonne Hofmann, Frank Schoenen, Gabriela Oprea… in Human Genetics (2003)

Article

Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

Classic spinal muscular atrophy (SMA) is caused by mutations in the telomeric copy of SMN1. Its product is involved in various cellular processes, including cytoplasmic assembly of spliceosomal small nuclear ribo...

Katja Grohmann, Markus Schuelke, Alexander Diers, Katrin Hoffmann… in Nature Genetics (2001)

Chapter

Spinale Muskelatrophien

Spinale Muskelatrophien (SMA) umfassen eine klinisch und genetisch heterogene Gruppe erblicher neuromuskulärer Erkrankungen, die nach heutiger Vorstellung durch einen selektiven, chronisch progredienten Unterg...

Sabine Rudnik-Schöneborn, Brunhilde Wirth, Tiemo Grimm… in Monogen bedingte Erbkrankheiten 1 (2000)

Chapter

Polyzystische Nierenerkrankungen

Zystische Nierenkrankheiten spielen in vielen Bereichen der Medizin eine wichtige Rolle, etwa 5-10% der Dialysepatienten leiden an Zystennieren. Zystennieren stellen eine heterogene Gruppe dar, die sowohl erwo...

Klaus Zerres, Sabine Rudnik-Schöneborn in Monogen bedingte Erbkrankheiten 2 (2000)

Article

Kidney growth and renal function in unilateral multicystic dysplastic kidney disease

The natural history of multicystic dysplastic kidney (MCDK) is not well established. We analyzed kidney growth and renal function in 33 children with prenatally diagnosed unilateral MCDK in a long-term study....

Ulrike John, Sabine Rudnik-Schöneborn, Klaus Zerres… in Pediatric Nephrology (1998)

Article

Autosomal recessive polycystic kidney disease

 Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disorder which usually becomes clinically manifest in early childhood, although the spectrum of ARPKD is much more variable than gener...

K. Zerres, Sabine Rudnik-Schöneborn, Carsten Steinkamm… in Journal of Molecular Medicine (1998)

Article

Autosomal recessive polycystic kidney disease does not map to the second gene locus for autosomal dominant polycystic kidney disease on chromosome 4

Linkage analysis in 19 families with autosomal recessive polycystic kidney disease (ARPKD) has shown that ARPKD is not linked to the recently assigned second gene locus for autosomal dominant polycystic kidney...

Klaus Zerres, Gabi Mücher, Sabine Rudnik-Schöneborn in Human Genetics (1994)