Results 201 to 210 of about 837,511 (259)

Colorectal cancer in Lynch syndrome families: consequences of gene germline mutations and the gut microbiota. [PDF]

Orphanet J Rare Dis
Wang X, Zheng Z, Yu D, Qiu X, Yang T, Li R, Liu J, Wang X, Jin P, Sheng J, Qin N, Li N, Xu J.   +12 more
europepmc   +1 more source

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

Emotional distress and quality of life in high and moderate penetrance germline mutations carriers diagnosed with breast cancer: a preliminary study. [PDF]

Med Pharm Rep
Filip CI, Pîrlog LM, Pătrăşcanu AA, Militaru MS, Iordănescu I, Dindelegan GC.   +5 more
europepmc   +1 more source

Germline Mutations and Ancestry in Prostate Cancer. [PDF]

Curr Oncol Rep
Bataba E, Babcock K, Isensee KA, Eldhose B, Kohaar I, Chesnut GT, Dobi A.   +6 more
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

Germline mutations in a G protein identify signaling cross-talk in T cells. [PDF]

Science
Ham H, Jing H, Lamborn IT, Kober MM, Koval A, Berchiche YA, Anderson DE, Druey KM, Mandl JN, Isidor B, Ferreira CR, Freeman AF, Ganesan S, Karsak M, Mustillo PJ, Teo J, Zolkipli-Cunningham Z, Chatron N, Lecoquierre F, Oler AJ, Schmid JP, Kuhns DB, Xu X, Hauck F, Al-Herz W, Wagner M, Terhal PA, Muurinen M, Barlogis V, Cruz P, Danielson J, Stewart H, Loid P, Rading S, Keren B, Pfundt R, Zarember KA, Vill K, Potocki L, Olivier KN, Lesca G, Faivre L, Wong M, Puel A, Chou J, Tusseau M, Moutsopoulos NM, Matthews HF, Simons C, Taft RJ, Soldatos A, Masle-Farquhar E, Pittaluga S, Brink R, Fink DL, Kong HH, Kabat J, Kim WS, Bierhals T, Meguro K, Hsu AP, Gu J, Stoddard J, Banos-Pinero B, Slack M, Trivellin G, Mazel B, Soomann M, Li S, Watts VJ, Stratakis CA, Rodriguez-Quevedo MF, Bruel AL, Lipsanen-Nyman M, Saultier P, Jain R, Lehalle D, Torres D, Sullivan KE, Barbarot S, Neu A, Duffourd Y, Similuk M, McWalter K, Blanc P, Bézieau S, Jin T, Geha RS, Casanova JL, Makitie OM, Kubisch C, Edery P, Christodoulou J, Germain RN, Goodnow CC, Sakmar TP, Billadeau DD, Küry S, Katanaev VL, Zhang Y, Lenardo MJ, Su HC.   +101 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

Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients. [PDF]

Cancers (Basel)
Kwong A, Ho CYS, Au CH, Ma ESK.
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