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Papers matching “promoter polymorphism” 16

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SNP rs10748643 within the promoter region of ENTPD1 (the gene encoding CD39) has no prognostic value in Sézary patients
2023 European Journal of Cancer article Medicine Cutaneous lymphoproliferative disorders research Open access

Yixin Luo, Kees Tensen, Willem H. Zoutman, Safa Najidh, Koen D. Quint, Maarten H. Vermeer

2

citations
Towards diagnostic criteria for malignant deep penetrating melanocytic tumors using single nucleotide polymorphism array and next-generation sequencing
2022 Modern Pathology article Medicine Cutaneous Melanoma Detection and Management Open access

Chiel F Ebbelaar, Anne M.R. Schrader, Marijke R. van Dijk, Ruud W. J. Meijers, Wendy W.J. de Leng, Lourens T. Bloem, +2 more

31

citations
Gene expression analysis in epileptic hippocampi reveals a promoter haplotype conferring reduced aldehyde dehydrogenase 5a1 expression and responsiveness
2020 Epilepsia article Medicine Epilepsy research and treatment Open access

Despina Tsortouktzidis, Herbert Schulz, Motaz Hamed, Hartmut Vatter, Rainer Surges, Susanne Schoch, +3 more

4

citations
Structural polymorphism of α-synuclein fibrils alters the pathway of Hsc70-mediated disaggregation
2025 The EMBO Journal article Medicine Parkinson's Disease Mechanisms and Treatments Open access

Jessica Tittelmeier, Thi Lieu Dang, Tracy Bellande, Virginie Redeker, Alexander Kai Buell, Janosch Hennig, +4 more

12

citations
Structural polymorphism of α-synuclein fibrils alters pathway of Hsc70 mediated disaggregation
2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Parkinson's Disease Mechanisms and Treatments Open access

Jessica Tittelmeier, Thi Lieu Dang, Tracy Bellande, Virginie Redeker, Alexander Kai Buell, Ronald Melki, +3 more

4

citations
Assessing the MUC5B promoter variant in a large cohort of systemic sclerosis-associated interstitial lung disease
2025 RMD Open article Medicine Systemic Sclerosis and Related Diseases Open access

Carlos Rosa-Baez, Carlos Rangel‐Peláez, Inmaculada Rodriguez‐Martin, Martin Kerick, Alfredo Guillén del Castillo, Carmen Pilar Simeón‐Aznar, +16 more

2

citations
SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility
2022 Acta Neuropathologica article Medicine Epilepsy research and treatment Open access

Katri Silvennoinen, Kinga Gaweł, Despina Tsortouktzidis, Julika Pitsch, Saud Alhusaini, Karen M. J. van Loo, +20 more

14

citations
LARGE DELETIONS IN THE F8 GENE PREDICT IMMUNE TOLERANCE INDUCTION FAILURE IN PEOPLE WITH SEVERE HEMOPHILIA A
2024 Hematology Transfusion and Cell Therapy article Medicine Hemophilia Treatment and Research Open access

Ilja Oomen, Linda Broer, RM Camelo, LEM Carvalho, Ilenia Lorenza Calcaterra, Manuel D Carcao, +15 more

0

citations
Genetic polymorphisms in interleukin-1β (rs1143634) and interleukin-8 (rs4073) are associated with survival after resection of intrahepatic cholangiocarcinoma
2023 Scientific Reports article Medicine Cholangiocarcinoma and Gallbladder Cancer Studies Open access

Isabella Lurje, Nadine Therese Gaisa, Edgar Dahl, Ruth Knüchel, Pavel Strnad, Christian Trautwein, +4 more

11

citations
APOBEC3 Proteins: From Antiviral Immunity to Oncogenic Drivers in HPV-Positive Cancers
2025 Viruses article Medicine Cervical Cancer and HPV Research Open access

Eliza Pizarro Castilha, Rosalba Biondo, Kleber Paiva Trugilo, Tim R. Fenton, Karen Brajão de Oliveira

10

citations
Synergistic impact of three complement polymorphisms in the donor, not the recipient, on long-term kidney allograft survival
2023 medRxiv preprint Medicine Renal Transplantation Outcomes and Treatments Open access

Felix Poppelaars, Mariana Gaya da Costa, Bernardo Faria, Siawosh K. Eskandari, Vojtěch Petr, V. Michael Holers, +5 more

1

citations
Addressing Neurodegenerative Diseases in Support of SDG 3: Good Health and Wellbeing: Recent Advances in Alzheimer’s and Other Neurodegeneration Research
2025 other Medicine Alzheimer's disease research and treatments

Isabella C. Felli, Bernd Reif, Geraldine Zimmer‐Bensch, Benedict C. Albensi, Roan Louw

0

citations
The ‘10 commandments’ for the 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death
2022 European Heart Journal article Medicine Cardiac electrophysiology and arrhythmias Open access

Jacob Tfelt‐Hansen, Bo Gregers Winkel, Marta Riva, Katja Zeppenfeld

128

citations
Identification of Functional Variant Enhancers Associated With Atrial Fibrillation
2020 Circulation Research article Medicine Cardiac electrophysiology and arrhythmias Open access

Antoinette F. van Ouwerkerk, Fernanda M. Bosada, Jia Liu, Juan Zhang, Karel van Duijvenboden, Mark D. Chaffin, +6 more

52

citations
The Role of Cow’s Milk Consumption in Breast Cancer Initiation and Progression
2023 Current Nutrition Reports article Medicine Cancer Risks and Factors Open access

Bodo Clemens Melnik, Swen Malte John, Pedro Carrera‐Bastos, Loren Cordain, Claus Leitzmann, Ralf Weiskirchen, +1 more

37

citations
A missense variant in human perilipin 2 (PLIN2 Ser251Pro) reduces hepatic steatosis in mice
2023 JHEP Reports article Medicine Liver Disease Diagnosis and Treatment Open access

Eleonora Scorletti, Yedidya Saiman, Sookyoung Jeon, Carolin Victoria Schneider, Delfin Gerard Buyco, Chelsea Lin, +19 more

12

citations

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