Results 231 to 240 of about 5,512,004 (328)

Medical genetics studies at BGRS conference series

BMC Medical Genetics, 2019
Ancha V. Baranova, Mikhail Yu. Skoblov, Elena N. Voropaeva, Piramanayagam Shanmughavel, Yuriy L. Orlov   +4 more
doaj   +1 more source

Homozygous <i>DBX1</i> Nonsense Variant in a Case of Atypical Congenital Central Hypoventilation. [PDF]

Neurol Genet
van der Ven AT, Hempel M, Kruse C, Blohm M, Grolle B, Kubisch C, Lessel D.   +6 more
europepmc   +1 more source

SensRORing cholesterol to drive protumoral myelopoiesis

Molecular Oncology, EarlyView.
Bleve et al. uncover a cholesterol‐driven immune evasion pathway, where RORγ‐dependent myelopoiesis shapes tumor immunosuppression. Targeting RORγ and PCSK9 emerges as a strategy to boost cancer immunotherapy. Protumoral myelopoiesis is a determinant of immunoevasion and tumor spread in many malignancies.
Sara Gennari, Luigi Nezi, Teresa Manzo
wiley   +1 more source

Correction: Profound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria. [PDF]

Eur J Hum Genet
Roach AN, Barkley H, Rodriquez C, Burrow TA, Anderson KE, Shukla A.   +5 more
europepmc   +1 more source

Emerging role of ARHGAP29 in melanoma cell phenotype switching

Molecular Oncology, EarlyView.
This study gives first insights into the role of ARHGAP29 in malignant melanoma. ARHGAP29 was revealed to be connected to tumor cell plasticity, promoting a mesenchymal‐like, invasive phenotype and driving tumor progression. Further, it modulates cell spreading by influencing RhoA/ROCK signaling and affects SMAD2 activity. Rho GTPase‐activating protein
Beatrice Charlotte Tröster, Melanie Kappelmann‐Fenzl, Anja Katrin Bosserhoff, Nicole Rachinger   +3 more
wiley   +1 more source

European training requirements for the specialty of medical genetics. [PDF]

Eur J Hum Genet
Moog U, Berg J, Kerr S, Turnpenny PD, Verloes A, Working Group ETR for Medical Genetics, Zschocke J.   +6 more
europepmc   +1 more source

The tumor–microbe connection

Molecular Oncology, EarlyView.
Tumor‐associated bacteria (TAB) dynamically influence cancer biology by modulating tumor progression, metastatic spread, and therapeutic efficacy. Their presence redefines the tumor microenvironment (TME) as a microbial–host interface, yet mechanistic insights remain limited. Understanding TAB colonization routes, functional impacts, and crosstalk with
Gerlanda Vella, Maria Rescigno
wiley   +1 more source

Medical genetics in China. [PDF]

Journal of Medical Genetics, 1988
openaire   +2 more sources

Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2018
D. Stewart, B. Korf, K. Nathanson, D. Stevenson, K. Yohay   +4 more
semanticscholar   +1 more source

Tumor‐agnostic detection of circulating tumor DNA in patients with advanced pancreatic cancer using targeted DNA methylation sequencing and cell‐free DNA fragmentomics

Molecular Oncology, EarlyView.
We evaluated circulating tumor DNA (ctDNA) detection in advanced pancreatic cancer using DNA methylation, cell‐free DNA fragment lengths, and 5′ end motifs. Machine learning models were trained to estimate ctDNA levels from each feature and their combination.
Morten Lapin, Kjersti Tjensvoll, Karin Hestnes Edland, Satu Oltedal, Herish Garresori, Bjørnar Gilje, Saga Ekedal, Trygve Eftestøl, Jan Terje Kvaløy, Filip Janku, Oddmund Nordgård   +10 more
wiley   +1 more source