Results 111 to 120 of about 306,932 (310)

The Huntington's disease mutation impairs Huntingtin's role in the transport of NF-κB from the synapse to the nucleus [PDF]

, 2010
Expansion of a polyglutamine (polyQ) tract in the Huntingtin (Htt) protein causes Huntington's disease (HD), a fatal inherited neurodegenerative disorder.
Baquet, Bates, Bennett, Bhakar, Blahos, Caviston, Chen, Cho, Colin, Colomer, Dragatsis, Dunkley, Edoardo Marcora, Engelender, Fagerlund, Fridmacher, Gauthier, Graham, Gray, Gutekunst, Hanz, Harkiolaki, Hayden, Hering, Hickey, Hunt, Imarisio, Jordan, Joshi, Kaltschmidt, Kaltschmidt, Kaltschmidt, Kennedy, Korkin, Kornau, Leavitt, Leavitt, Li, Li, Li, Lipsky, Ma, Marcora, Marini, Marini, Mary B. Kennedy, Mattson, Meffert, Meffert, Menalled, Mikenberg, Mosammaparast, Otis, Patterson, Perlson, Shimojo, Simmons, Song, Strand, Sun, Suzuki, Takano, The Huntington's Disease Collaborative Research Group, Thompson, Tian, Towbin, Trushina, Velier, Wang, Wellmann, Xie, Zhang, Zuccato, Zuccato, Zuccato   +74 more
core   +4 more sources

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B₁₂. [PDF]

Clin Epigenetics, 2022
Oussalah A, Siblini Y, Hergalant S, Chéry C, Rouyer P, Cavicchi C, Guerrini R, Morange PE, Trégouët D, Pupavac M, Watkins D, Pastinen T, Chung WK, Ficicioglu C, Feillet F, Froese DS, Baumgartner MR, Benoist JF, Majewski J, Morrone A, Rosenblatt DS, Guéant JL.   +21 more
europepmc   +1 more source

In vitro models of cancer‐associated fibroblast heterogeneity uncover subtype‐specific effects of CRISPR perturbations

Molecular Oncology, EarlyView.
Development of therapies targeting cancer‐associated fibroblasts (CAFs) necessitates preclinical model systems that faithfully represent CAF–tumor biology. We established an in vitro coculture system of patient‐derived pancreatic CAFs and tumor cell lines and demonstrated its recapitulation of primary CAF–tumor biology with single‐cell transcriptomics ...
Elysia Saputra, Shamsudheen Karuthedath Vellarikkal, Lixia Li, Hong Sun, Khoa Nguyen, Amber Montano, Suchitra Natarajan, Federica Piccioni, Alex Michael Tamburino, Xin Yu, Aleksandra Katarzyna Olow   +10 more
wiley   +1 more source

FREQUENCY OF INHERITED PLATELE FUNCTION DISORDERS–ARMED FORCES INSTITUTE OF PATHOLOGY EXPERIENCE

Pakistan Armed Forces Medical Journal, 2020
Objective: To determine the frequency and clinical features of inherited platelet function disorders diagnosed at Armed Forces Institute of Pathology. Study Design: Cross sectional study.
Saira Irum, Helen Mary Robert, Asad Mahmood, Rafia Mahmood, Ayesha Khurshid, Mansoor Ishaq   +5 more
doaj  

Congenital Adrenal Hyperplasia: A Case Report with Premature Teeth Exfoliation and Bone Resorption [PDF]

, 2015
Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by insufficient production of cortisol. The aim of this case report was to present a child with CAH, premature exfoliation of primary teeth and accelerated ...
Angelopoulou, Matina V., Emmanouil, Dimitris E., Kontogiorgos, Elias D.   +2 more
core   +1 more source

Transcriptional network analysis of PTEN‐protein‐deficient prostate tumors reveals robust stromal reprogramming and signs of senescent paracrine communication

Molecular Oncology, EarlyView.
Combining PTEN protein assessment and transcriptomic profiling of prostate tumors, we uncovered a network enriched in senescence and extracellular matrix (ECM) programs associated with PTEN loss and conserved in a mouse model. We show that PTEN‐deficient cells trigger paracrine remodeling of the surrounding stroma and this information could help ...
Ivana Rondon‐Lorefice, Jose I. Lopez, Aitziber Ugalde‐Olano, Maite Zufiaurre, Ianire Astobiza, Natalia Martin‐Martin, Laura Bozal‐Basterra, Saioa Garcia‐Longarte, Amaia Zabala‐Letona, Sofia Rey, Aida Santos‐Martin, Miguel Unda, Ana Loizaga‐Iriarte, Mariona Graupera, Paolo Nuciforo, Arkaitz Carracedo, Isabel Mendizabal   +16 more
wiley   +1 more source

Potential therapeutic targeting of BKCa channels in glioblastoma treatment

Molecular Oncology, EarlyView.
This review summarizes current insights into the role of BKCa and mitoBKCa channels in glioblastoma biology, their potential classification as oncochannels, and the emerging pharmacological strategies targeting these channels, emphasizing the translational challenges in developing BKCa‐directed therapies for glioblastoma treatment.
Kamila Maliszewska‐Olejniczak, Karolina Pytlak, Sandra Jaworowska, Bogusz Kulawiak, Piotr Bednarczyk   +4 more
wiley   +1 more source

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

Haematologica, 2018
Inherited platelet disorders are a heterogeneous group of rare diseases, caused by inherited defects in platelet production and/or function. Their genetic diagnosis would benefit clinical care, prognosis and preventative treatments.
José M. Bastida, María L. Lozano, Rocío Benito, Kamila Janusz, Verónica Palma-Barqueros, Mónica Del Rey, Jesús M. Hernández-Sánchez, Susana Riesco, Nuria Bermejo, Hermenegildo González-García, Agustín Rodriguez-Alén, Carlos Aguilar, Teresa Sevivas, María F. López-Fernández, Anna E. Marneth, Bert A. van der Reijden, Neil V. Morgan, Steve P. Watson, Vicente Vicente, Jesús M. Hernández-Rivas, José Rivera, José R. González-Porras   +21 more
doaj   +1 more source

Plecstatin inhibits hepatocellular carcinoma tumorigenesis and invasion through cytolinker plectin

Molecular Oncology, EarlyView.
The ruthenium‐based metallodrug plecstatin exerts its anticancer effect in hepatocellular carcinoma (HCC) primarily through selective targeting of plectin. By disrupting plectin‐mediated cytoskeletal organization, plecstatin inhibits anchorage‐dependent growth, cell polarization, and tumor cell dissemination.
Zuzana Outla, Jan Kosla, Magdalena Prechova, Lukas Frick, Patricia Bortel, Yasmin Borutzki, Andrea Bileck, Christopher Gerner, Samuel M. Meier‐Menches, Selma Osmanagic‐Myers, Martin Gregor   +10 more
wiley   +1 more source

Congenital Afibrinogenemia: Anaesthetic Implications of a Rare Inherited Coagulation Disorder

The Indian Anaesthetists' Forum, 2015
Congenital afibrinogenemia is a very rare inherited bleeding disorder that results from fibrinogen deficiency and is associated with bleeding manifestations of varying severity. A 21 Year-old, diagnosed case of congenital afibrinogenemia, was admitted to
Archana Kalaichelvam, Jui Lagoo
doaj