Janine Altmüller
University of Cologne
Molecular biologyExome sequencingMutationGeneticsBiology
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Publications 263
#1Hong Jiang (MPG: Max Planck Society)H-Index: 2
#2Sarah Gallet (university of lille)
Last. Anne Loyens (university of lille)H-Index: 22
view all 15 authors...
Summary Melanin-concentrating hormone (MCH)-expressing neurons are key regulators of energy and glucose homeostasis. Here, we demonstrate that they provide dense projections to the median eminence (ME) in close proximity to tanycytes and fenestrated vessels. Chemogenetic activation of MCH neurons as well as optogenetic stimulation of their projections in the ME enhance permeability of the ME by increasing fenestrated vascular loops and enhance leptin action in the arcuate nucleus of the hypothal...
#1Thomas Sauvigny (UHH: University of Hamburg)H-Index: 5
#2Malik Alawi (UHH: University of Hamburg)H-Index: 17
Last. Andre Franke (CAU: University of Kiel)H-Index: 87
view all 16 authors...
OBJECTIVE: Genetic risk factors for unruptured intracranial aneurysms (UIA) and aneurysmal subarachnoid hemorrhage (aSAH) are poorly understood. We aimed to verify recently reported risk genes and to identify novel sequence variants involved in the etiology of UIA/aSAH. METHODS: We performed exome sequencing (ES) in 35 unrelated individuals and 3 family members, each with a history of UIA and/or aSAH. We searched for sequence variants with minor allele frequency (MAF)
#1Birgit Budde (University of Cologne)H-Index: 12
#2Maha Abdelgaber Aly (Assiut University)
Last. Christian Becker (University of Cologne)H-Index: 37
view all 16 authors...
Nonsyndromic hearing loss is an extremely heterogeneous disorder. Thus, clinical diagnostics is challenging, in particular due to differences in the etiology of hearing loss between populations. With this study, we wanted to elucidate the genetic basis of hearing loss in 61 consanguineous Egyptian families. In 25 families, linkage analysis was used as a prescreening to identify regions for targeted sequencing of candidate genes. Initially, the coding regions of 12 and later of 94 genes associate...
#1M Krämer (University of Cologne)
#2Patrick Sven Plum (University of Cologne)H-Index: 6
Last. Marek Franitza (University of Cologne)H-Index: 8
view all 20 authors...
Single cell transcriptomics have revolutionized our understanding of the cell composition of tumors and allowed us to identify new subtypes of cells. Despite rapid technological advancements, single cell analysis remains resource intense hampering the scalability that is required to profile a sufficient number of samples for clinical associations. Therefore, more scalable approaches are needed to understand the contribution of individual cell types to the development and treatment response of so...
#1Paurnima Patil (University of Ulm)
#2Agata Cieslak (Necker-Enfants Malades Hospital)H-Index: 5
Last. Reiner Siebert (CAU: University of Kiel)H-Index: 86
view all 30 authors...
T-cell prolymphocytic leukemia (T-PLL) is an aggressive tumor with leukemic presentation of mature T-lymphocytes. Here, we aimed at characterizing the initial events in the molecular pathogenesis of T-PLL and particularly, at determining the point in T-cell differentiation when the hallmark oncogenic events, that is, inv(14)(q11q32)/t(14;14)(q11;q32) and t(X;14)(q28;q11) occur. To this end, we mined whole genome and transcriptome sequencing data of 17 and 11 T-PLL cases, respectively. Mapping of...
#1Birgit BuddeH-Index: 12
Last. Christian BeckerH-Index: 1
view all 16 authors...
#2Jan HaukeH-Index: 19
Last. Claus HanuschH-Index: 27
view all 25 authors...
Importance The GeparOcto randomized clinical trial compared the efficacy of 2 neoadjuvant breast cancer (BC) treatment regimens: sequential intense dose-dense epirubicin, paclitaxel, and cyclophosphamide (iddEPC) vs weekly paclitaxel and nonpegylated liposomal doxorubicin (PM) in patients with different biological BC subtypes. Patients with triple-negative BC (TNBC) randomized to the PM arm received additional carboplatin (PMCb). Overall, no difference in pathologic complete response (pCR) rates...
1 CitationsSource
#1Matthias Pergande (University of Cologne)H-Index: 2
#2Susanne Motameny (University of Cologne)H-Index: 12
Last. Sebahattin Cirak (University of Cologne)H-Index: 10
view all 31 authors...
Fetal akinesia has multiple clinical subtypes with over 160 gene associations, but the genetic etiology is not yet completely understood. In this study, 51 patients from 47 unrelated families were analyzed using next-generation sequencing (NGS) techniques aiming to decipher the genomic landscape of fetal akinesia (FA). We have identified likely pathogenic gene variants in 37 cases and report 41 novel variants. Additionally, we report putative pathogenic variants in eight cases including nine nov...
1 CitationsSource
#1Gökhan Yigit (GAU: University of Göttingen)H-Index: 18
#2Ken Saida (YCU: Yokohama City University)H-Index: 5
Last. Janine Altmüller (University of Cologne)H-Index: 47
view all 24 authors...
RHOA is a member of the Rho family of GTPases that are involved in fundamental cellular processes including cell adhesion, migration, and proliferation. RHOA can stimulate the formation of stress fibers and focal adhesions and is a key regulator of actomyosin dynamics in various tissues. In a Genematcher-facilitated collaboration, we were able to identify four unrelated individuals with a specific phenotype characterized by hypopigmented areas of the skin, dental anomalies, body asymmetry, and l...
#1Marc Johnsen (University of Cologne)H-Index: 1
#1Marc JohnsenH-Index: 1
Last. Bianca HabermannH-Index: 49
view all 16 authors...
BACKGROUND: Although AKI lacks effective therapeutic approaches, preventive strategies using preconditioning protocols, including caloric restriction and hypoxic preconditioning, have been shown to prevent injury in animal models. A better understanding of the molecular mechanisms that underlie the enhanced resistance to AKI conferred by such approaches is needed to facilitate clinical use. We hypothesized that these preconditioning strategies use similar pathways to augment cellular stress resi...
1 CitationsSource