Results 231 to 240 of about 2,433,337 (290)

Corrigendum to "A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant With Severe High Anion Gap Acidosis and Review of the Literature". [PDF]

Case Rep Genet
europepmc   +1 more source

Quality education as a cornerstone of community genetics. [PDF]

J Community Genet
Houwink EJ.
europepmc   +1 more source

Single‐cell transcriptomics redefines focal neuroendocrine differentiation as a distinct prostate cancer pathology

Molecular Oncology, EarlyView.
Single‐cell transcriptomics of prostate cancer patient‐derived xenografts reveals distinct features of neuroendocrine (NE) subtypes. Tumours with focal NE differentiation (NED) share transcriptional programmes with adenocarcinoma, differing from large and small cell neuroendocrine prostate cancer (NEPC). Our work defines the molecular landscape of NEPC,
Rosalia Quezada Urban, Shivakumar Keerthikumar, Ashlee Clark, Hong Wang, Belinda Phipson, Andrew Bakshi, Andrew Ryan, Heather Thorne, Renea A. Taylor, Mitchell G. Lawrence, Gail P. Risbridger, Roxanne Toivanen, David L. Goode   +12 more
wiley   +1 more source

Lenmeldy (atidarsagene autotemcel) for individuals with early metachromatic leukodystrophy (MLD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Gangji RN, Ali QA, Dhamija R, Corado AM, Kharbanda S, ACMG Therapeutics Committee6∗documents@acmg.net.   +5 more
europepmc   +1 more source

Decrypting cancer's spatial code: from single cells to tissue niches

Molecular Oncology, EarlyView.
Spatial transcriptomics maps gene activity across tissues, offering powerful insights into how cancer cells are organised, switch states and interact with their surroundings. This review outlines emerging computational, artificial intelligence (AI) and geospatial approaches to define cell states, uncover tumour niches and integrate spatial data with ...
Cenk Celik, Shi Pan, Eloise Withnell, Hou Wang Lam, Maria Secrier   +4 more
wiley   +1 more source

Knowledge and attitudes about rare genetic diseases among practitioners of oral medicine/pathology in Brazil: a cross-sectional study. [PDF]

Front Oral Health
Trezena S, Martelli DRB, Bonan PRF, Graner E, Sobrinho LMF, Alawi F, Coletta RD, Martelli-Júnior H.   +7 more
europepmc   +1 more source

Bridging the gap: Multi‐stakeholder perspectives of molecular diagnostics in oncology

Molecular Oncology, EarlyView.
Although molecular diagnostics is transforming cancer care, implementing novel technologies remains challenging. This study identifies unmet needs and technology requirements through a two‐step stakeholder involvement. Liquid biopsies for monitoring applications and predictive biomarker testing emerge as key unmet needs. Technology requirements vary by
Jorine Arnouts, Senada Koljenović, Elise Daems, Karolien De Wael, Marc Peeters, Léon C. van Kempen, Greetje Vanhoutte, Karen Zwaenepoel, Timon Vandamme   +8 more
wiley   +1 more source

A single gene mutation predicts response to immune checkpoint blockade in ovarian clear cell carcinoma

Molecular Oncology, EarlyView.
Loss‐of‐function mutations in the scaffold subunit of protein phosphatase 2A (PP2A), PPP2R1A, sensitize ovarian clear cell carcinoma to immune checkpoint blockade (ICB) by enhancing the interferon gamma response and promoting antitumor immune cell infiltration.
Matheus Henrique Dias, René Bernards
wiley   +1 more source

Rotavirus Reverse Genetics Systems and Oral Vaccine Delivery Vectors for Mucosal Vaccination. [PDF]

Microorganisms
Wang J, Qin S, Li K, Yin X, Sun D, Chang J.   +5 more
europepmc   +1 more source

Adenosine‐to‐inosine editing of miR‐200b‐3p is associated with the progression of high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
A‐to‐I editing of miRNAs, particularly miR‐200b‐3p, contributes to HGSOC progression by enhancing cancer cell proliferation, migration and 3D growth. The edited form is linked to poorer patient survival and the identification of novel molecular targets.
Magdalena Niemira, Anna Skwarska, Karolina Chwialkowska, Agnieszka Ostrowska, Gabriela Sokolowska, Anna Zeller, Anna Erol, Andrzej Eljaszewicz, Bartosz Hanczaruk, Anna Michalska‐Falkowska, Agnieszka Tarasik, Joanna Reszec‐Gielazyn, Pawel Knapp, Marcin Moniuszko, Adam Kretowski   +14 more
wiley   +1 more source