2023

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs
Klämbt V, Buerger F, Wang C, Naert T, Richter K, Nauth T, Weiss A, Sieckmann T, Lai E, Connaughton D, Seltzsam S, Mann N, Majmundar A, Wu C, Onuchic-Whitford A, Shril S, Schneider S, Schierbaum L, Dai R, Bekheirnia M, Joosten M, Shlomovitz O, Vivante A, Banne E, Mane S, Lifton R, Kirschner K, Kispert A, Rosenberger G, Fischer K, Lienkamp S, Zegers M, Hildebrandt F
J AM SOC NEPHROL. 2023;34(2):273-290.

Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes
Nauth T, Bazgir F, Voß H, Brandenstein L, Mosaddeghzadeh N, Rickassel V, Deden S, Gorzelanny C, Schlüter H, Ahmadian M, Rosenberger G
HUM MOL GENET. 2023;32(2):304-318.

2022

Expanding the clinical spectrum of COL2A1 related disorders by a MASS like phenotype
Demal T, Scholz T, Schüler H, Olfe J, Fröhlich A, Speth F, von Kodolitsch Y, Mir T, Reichenspurner H, Kubisch C, Hempel M, Rosenberger G
SCI REP-UK. 2022;12(1):4489.

A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome
Lindsey-Temple S, Edwards M, Rickassel V, Nauth T, Rosenberger G
EUR J HUM GENET. 2022;30(9):1088-1093.

The focal adhesion protein β-parvin controls cardiomyocyte shape and sarcomere assembly in response to mechanical load
Thievessen I, Suhr F, Vergarajauregui S, Böttcher R, Brixius K, Rosenberger G, Dewald O, Fleischmann B, Ghanem A, Krüger M, Engel F, Fabry B, Bloch W, Fässler R
CURR BIOL. 2022;32(14):3033-3047.e9.

2020

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects
Gripp K, Baker L, Robbins K, Stabley D, Bellus G, Kolbe V, Nauth T, Rosenberger G
EUR J HUM GENET. 2020;28(11):1548-1554.

Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage
Sauvigny T, Alawi M, Krause L, Renner S, Spohn M, Busch A, Kolbe V, Altmüller J, Löscher B, Franke A, Brockmann C, Lieb W, Westphal M, Schmidt N, Regelsberger J, Rosenberger G
J NEUROL. 2020;267(9):2533-2545.

2019

16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome
Kloth K, Renner S, Burmester G, Steinemann D, Pabst B, Lorenz B, Simon R, Kolbe V, Hempel M, Rosenberger G
CLIN GENET. 2019;96(1):85-90.

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients
Renner S, Schüler H, Alawi M, Kolbe V, Rybczynski M, Woitschach R, Sheikhzadeh S, Stark V, Olfe J, Roser E, Seggewies F, Mahlmann A, Hempel M, Hartmann M, Hillebrand M, Wieczorek D, Volk A, Kloth K, Koch-Hogrebe M, Abou Jamra R, Mitter D, Altmüller J, Wey-Fabrizius A, Petersen C, Rau I, Borck G, Kubisch C, Mir T, von Kodolitsch Y, Kutsche K, Rosenberger G
GENET MED. 2019;21(8):1832-1841.

2018

A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
Johannsen J, Kortüm F, Rosenberger G, Bokelmann K, Schirmer M, Denecke J, Santer R
NEUROGENETICS. 2018;19(3):151-156.

RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1
Meyer Zum Büschenfelde U, Brandenstein L, von Elsner L, Flato K, Holling T, Zenker M, Rosenberger G, Kutsche K
PLOS GENET. 2018;14(5):e1007370.

2017

Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS Mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics
Gripp K, Kolbe V, Brandenstein L, Rosenberger G
CLIN GENET. 2017;92(3):332-337.

2016

The role of the multidisciplinary health care team in the management of patients with Marfan syndrome
von Kodolitsch Y, Rybczynski M, Vogler M, Mir T, Schüler H, Kutsche K, Rosenberger G, Detter C, Bernhardt A, Larena-Avellaneda A, Kölbel T, Debus E, Schroeder M, Linke S, Fuisting B, Napp B, Kammal A, Püschel K, Bannas P, Hoffmann B, Gessler N, Vahle-Hinz E, Kahl-Nieke B, Thomalla G, Weiler-Normann C, Ohm G, Neumann S, Benninghoven D, Blankenberg S, Pyeritz R
J MULTIDISCIP HEALTH. 2016;9:587-614.

2015

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
Abdollahpour H, Alawi M, Kortüm F, Beckstette M, Seemanova E, Komárek V, Rosenberger G, Kutsche K
EUR J HUM GENET. 2015;23(2):256-259.

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences
Gripp K, Sol-Church K, Smpokou P, Graham G, Stevenson D, Hanson H, Viskochil D, Baker L, Russo B, Gardner N, Stabley D, Kolbe V, Rosenberger G
AM J MED GENET A. 2015;167A(9):2085-97.

αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor
Kortüm F, Harms F, Hennighausen N, Rosenberger G
PLOS ONE. 2015;10(7):e0132737.

2014

RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR
Brand K, Kentsch H, Glashoff C, Rosenberger G
HUM MUTAT. 2014;35(11):1372-81.

Exom-Sequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome: Erfahrungen aus Hamburg
Kortüm F, Abdollahpour H, Alawi M, Korenke G, Seemanova E, Tinschert S, Zenker M, Rosenberger G, Kutsche K
MED GENET-BERLIN. 2014;26:246-254.

2013

Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci
Chilian B, Abdollahpour H, Bierhals T, Haltrich I, Fekete G, Nagel I, Rosenberger G, Kutsche K
CLIN GENET. 2013;84(6):560-5.

A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm
Leutermann R, Sheikhzadeh S, Brockstädt L, Rybczynski M, van Rahden V, Kutsche K, Kodolitsch Y, Rosenberger G
EUR J HUM GENET. 2013;22:944-948.

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome
Lorenz S, Lissewski C, Simsek-Kiper P, Alanay Y, Boduroglu K, Zenker M, Rosenberger G
HUM MOL GENET. 2013;22(8):1643-53.

Reelin and the Cdc42/Rac1 guanine nucleotide exchange factor αPIX/Arhgef6 promote dendritic Golgi translocation in hippocampal neurons
Meseke M, Rosenberger G, Förster E
EUR J NEUROSCI. 2013;37(9):1404-12.

2012

A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
Gripp K, Bifeld E, Stabley D, Hopkins E, Meien S, Vinette K, Sol-Church K, Rosenberger G
AM J MED GENET A. 2012;158A(9):2106-2118.

Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits.
Ramakers G, Wolfer D, Rosenberger G, Kuchenbecker K, Kreienkamp H, Prange-Kiel J, Rune G, Richter K, Langnaese K, Masneuf S, Bösl M, Fischer K, Krugers H, Lipp H, van Galen E, Kutsche K
HUM MOL GENET. 2012;21(2):268-286.

Letzte Aktualisierung aus dem FIS: 20.11.2024 - 23:35 Uhr