Results 111 to 120 of about 1,217,828 (289)

Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice

iScience
Summary: Recognizing individuals with Genetic tumor syndromes (GTS) in the primary central nervous system (CNS) tumors is crucial for optimizing proper genetic counseling and improving therapeutics and clinical care.
Chuanwei Wang, Jian Chen, Yanzhao Wang, Ningning Luo, Tiantian Han, Xiangyu Yin, Yunjie Song, Dongsheng Chen, Jie Gong   +8 more
doaj   +1 more source

Time after time – circadian clocks through the lens of oscillator theory

FEBS Letters, EarlyView.
Oscillator theory bridges physics and circadian biology. Damped oscillators require external drivers, while limit cycles emerge from delayed feedback and nonlinearities. Coupling enables tissue‐level coherence, and entrainment aligns internal clocks with environmental cues.
Marta del Olmo, Carolin Ector, Hanspeter Herzel   +2 more
wiley   +1 more source

Predictive gene expression profile for adjuvant taxane benefit in breast cancer in the MATADOR trial

iScience
Summary: The primary objective of the prospective, randomized, multicenter, phase 3 biomarker Microarray Analysis in breast cancer to Taylor Adjuvant Drugs Or Regimens trial (MATADOR: ISRCTN61893718) is to generate a gene expression profile that can ...
Mark Opdam, Annelot G.J. van Rossum, Marlous Hoogstraat, Gergana Bounova, Hugo M. Horlings, Erik van Werkhoven, Ingrid A.M. Mandjes, A. Elise van Leeuwen – Stok, Sander Canisius, Harm van Tinteren, Alex L.T. Imholz, Johanneke E.A. Portielje, Monique E.M.M. Bos, Sandra Bakker, Jelle Wesseling, Lennart Kester, Jacco van Rheenen, Emiel J. Rutgers, Renee X. de Menezes, Lodewyk F.A. Wessels, Marleen Kok, Hendrika M. Oosterkamp, Sabine C. Linn, Sabine C. Linn, Marcel Soesan, Rianne M. Oosterkamp, Frank Jeurissen, Nir Weijl, Alex L.T. Imholz, Johanneke E.A. Portielje, Karin J. Beelen, Monique E.M.M. Bos, Aart van Bochove, Gerty de Klerk, Suzan Vrijaldenhoven, Annette van der Velden, Hiltje de Graaf, Marielle Smeets, Jetske Meerum Terwogt, Jolanda Schrama, Philomeen Kuijer, Hanneke Wilmink, Ronald Hoekstra, Judith Kroep, Hans F.M. Pruijt, Leander van Gerven, Allert H. Vos, Frans Erdkamp, Willemien G. van Leeuwen-Breuk, Alexander de Graeff   +49 more
doaj   +1 more source

Primary hypertrophic osteoarthropathy: genetics, clinical features and management. [PDF]

Front Endocrinol (Lausanne), 2023
Lu Q, Xu Y, Zhang Z, Li S, Zhang Z.
europepmc   +1 more source

Medical genetics: Development of ethical dimensionsin clinical practice and research [PDF]

, 2016
A Witness Seminar on the emergence of complex ethical issues in clinical genetics practice, the evolution of these issues over several decades of advances in medical genetics research and social change, and the professionalization of this field.
Jones, EM, Tansey, EM
core  

The newfound relationship between extrachromosomal DNAs and excised signal circles

FEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers. [PDF]

Cureus, 2023
Kumari K, Saleh I, Taslim S, Ahmad S, Hussain I, Munir Z, Javed T, Virk MFI, Javed S, Bisharat P, Ur Rehman U.   +10 more
europepmc   +1 more source

Psychosocial Risks of Storing and Using Human Tissues in Research [PDF]

, 1997
Dr. Merz argues that genetics technology makes it more compelling that researchers plan more carefully for the collection and disposition of information derived from subjects\u27 tissues and ...
Merz, Jon F.
core   +1 more source

ABC of clinical genetics. Prenatal diagnosis. [PDF]

, 1989
Helen Kingston
openalex   +1 more source

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source