Results 181 to 190 of about 116,502 (262)

Hemophilia A: An Ideal Disease for Prenatal Therapy

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemophilia A (HA) is the most common inherited coagulation defect. Current state‐of‐the‐art treatment consists of frequent administration of prophylactic infusions of coagulation factor VIII (FVIII) protein or bispecific antibodies that replace the cofactor function of FVIIIa to maintain hemostasis. However, these treatments are far from ideal,
Christopher D. Porada, Anthony Atala, Graça Almeida‐Porada   +2 more
wiley   +1 more source

The Evolutionary Interplay of Somatic and Germline Mutation Rates. [PDF]

Annu Rev Biomed Data Sci
Beichman AC, Zhu L, Harris K.
europepmc   +1 more source

Levodopa‐Responsive Parkinsonism Preceded by Isolated Upper Limb Tremor Associated with PTEN Variant

Movement Disorders Clinical Practice, EarlyView.
Sacha E. Gandhi, Rekha Siripurapu, Audrey Smith, Christopher Kobylecki   +3 more
wiley   +1 more source

Precision medicine in cancer: A comprehensive review of advanced cancer diagnosis technologies and personalized treatment strategies

Precision Medical Sciences, EarlyView.
The translational pipeline of precision medicine in clinical oncology. Schematic overview of the individualized cancer care workflow. (1) Input: Patient samples undergo multi‐omic profiling via NGS, single‐cell diagnostics, spatial maps, and epigenetic sequencing.
Asif Jan, Bushra Waheed, Rani Akbar, Daniel Dubwa   +3 more
wiley   +1 more source

Diverse mechanisms of leukemogenesis associated with PAX5 germline mutation. [PDF]

Leukemia
Bettini LR, Fazio G, Saitta C, Piazza R, Palamini S, Buracchi C, Rebellato S, Santoro N, Simone C, Biondi A, Cazzaniga G.   +10 more
europepmc   +1 more source

Human Prostate Cell Lines: Derivation, Molecular Characteristics and Appropriate Use

The Prostate, EarlyView.
ABSTRACT Background Research on prostate cancer and benign prostatic hyperplasia depends on a small number of immortalized human cell lines established between 1977 and 2001, most of them from advanced metastatic disease. The cell lines differ from one another in androgen receptor status, prostate‐specific antigen secretion, p53 status, karyotype and ...
Hamza Abohamra, Keenau Mark Pearce
wiley   +1 more source

Case Report: A familial hematological pedigree reveals VHL germline mutation as a principal predisposition factor with additional mutations modulating phenotypic heterogeneity. [PDF]

Front Oncol
Chen H, Hu W, Ma C, Zhang M, Yang F, Zeng P.   +5 more
europepmc   +1 more source

Real‐World HRR Testing Pathways and Patterns of Detected Alterations in Prostate Cancer From the Multinational ARON‐3 Study

The Prostate, EarlyView.
ABSTRACT Background Homologous recombination repair (HRR) testing is increasingly relevant in prostate cancer because it identifies patients who may benefit from biomarker‐guided treatment strategies, including poly(ADP‐ribose) polymerase inhibitors (PARPi).
Lorena Incorvaia, Veronica Mollica, Ondřej Fiala, Kazutoshi Fujita, Yüksel Ürün, Bohuslav Melichar, Javier Molina‐Cerrillo, Teresa Alonso‐Gordoa, Umberto Basso, Maria T. Bourlon, Emmanuel Seront, Ugo De Giorgi, Maria José Juan Fita, Pasquale Rescigno, Tarek Taha, Fernando C. Maluf, Alexandr Poprach, Simona De Summa, Tomas Buchler, Luca Galli, Jindrich Kopecky, Gaetano Aurilio, Jakub Kucharz, Carlo Messina, Gabriel Berlingieri Polho, Sarah Scagliarini, Francesco Grillone, Diogo Assed Bastos, Luigi Formisano, Gian Paolo Spinelli, Alessandra Mosca, Alessandro Rizzo, Aristotelis Bamias, Fernando Sabino Marques Monteiro, Andrey Soares, Francesco Massari, Andrew J. Armstrong, Matteo Santoni   +37 more
wiley   +1 more source

Case Report: Influence of BRCA1 germline mutation on treatment-related morbidity of a non-seminomatous germ cell tumor patient. [PDF]

Front Oncol
Griesler B, Schulze S, Kegel T, Dierks C, Villavicencio-Lorini P, Eszlinger M, Al-Ali HK, Jaekel N.   +7 more
europepmc   +1 more source