Results 101 to 110 of about 436,315 (283)

Heterozygous Deletion of the 3' Portion of Factor X Gene in a Family with Factor X Deficiency.

, 1989
Heterozygous Deletion found in the 3' Portion of Factor X Gene in a family with Coagulation Factor X ...
BERNARDI, Francesco, MARCHETTI, Giovanna, P. Simoni, A. Girolami, GEMMATI, Donato, P. Patracchini   +5 more
core  

Perinatal Gene Transfer to the Liver

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Ward, N.J., Buckley, S.M.K., Ward, NJ, Chan, J.K.Y., Waddington, S.N., Rahim, A.A., Waddington, SN, Rahim, AA, Chan, JK, Mckay, T.R., Howe, S.J., Howe, SJ, McKay, TR   +13 more
core   +1 more source

Establishment of a humanized patient‐derived xenograft mouse model of high‐grade serous ovarian cancer for preclinical evaluation of combination immunotherapy

Molecular Oncology, EarlyView.
We have established a humanized orthotopic patient‐derived xenograft (Hu‐oPDX) mouse model of high‐grade serous ovarian cancer (HGSOC) that recapitulates human tumor–immune interactions. Using combined anti‐PD‐L1/anti‐CD73 immunotherapy, we demonstrate the model's improved biological relevance and enhanced translational value for preclinical ...
Luka Tandaric, Line Bjørge, Martine Rott Lode, Cecilie Fredvik Torkildsen, Pia Aehnlich, Rammah Elnour, Daniela Elena Costea, Lars Andreas Akslen, Liv Cecilie Vestrheim Thomsen, Emmet McCormack, Katrin Kleinmanns   +10 more
wiley   +1 more source

Acquired Vitamin K Deficiency as Unusual Cause of Bleeding Tendency in Adults: A Case Report of a Nonhospitalized Student Presenting with Severe Menorrhagia

Case Reports in Obstetrics and Gynecology, 2017
We report a rare case of acquired vitamin K deficiency presenting with severe menorrhagia and without any gynecological problem. Partial thromboplastin time (59.2 seconds) and prothrombin time (33.1 seconds, INR: 5.97) were considerably prolonged in ...
Omid Reza Zekavat, Gholamreza Fathpour, Sezaneh Haghpanah, Seyed Javad Dehghani, Maryam Zekavat, Nader Shakibazad   +5 more
doaj   +1 more source

Spectrum of factor X gene mutations in Iranian patients with congenital factor X deficiency

, 2016
Congenital factor X deficiency is one of the most severe forms of rare bleeding disorders transmitted in autosomal recessive manner. According to the World Federation of Hemophilia survey, 153 patients with factor X deficiency (FXD) live in Iran, but a ...
Hosseini, S., Dorgalele, S., Shamsizadeh, M., Alizadeh, S., Dorgalaleh, A., Zaker, F., Tabibian, S.   +6 more
core  

Transient, selective factor X deficiency and acute liver failure following chest infection treated with erythromycin BP.

, 1983
A 57-year-old man developed symptoms of a respiratory tract infection which was treated with erythromycin BP. He subsequently went into acute liver failure.
Jewell, DP, D P Jewell, Hosker, JP, J P Hosker   +3 more
core   +1 more source

Hippo pathway at the crossroads of stemness and therapeutic resistance in breast cancer

Molecular Oncology, EarlyView.
Dysregulation of the Hippo pathway drives nuclear accumulation of YAP/TAZ, activating stemness‐related transcriptional programs that sustain breast cancer stemness and fuel therapeutic resistance across subtypes, underscoring Hippo signaling as a targetable vulnerability. Figure created and edited with BioRender.com.
Giulia Schiavoni, Antonella Palmese, Stefano Scalera, Laura Cipriani, Davide Mascolo, Patrizia Vici, Teresa Arcuri, Lorena Filomeno, Eriseld Krasniqi, Giovanni Blandino, Giulia Bon, Marcello Maugeri‐Saccà   +11 more
wiley   +1 more source

Deciphering transcriptional plasticity in pancreatic ductal adenocarcinoma reveals alterations in sensory neuron innervation

Molecular Oncology, EarlyView.
Pancreatic sensory neurons innervating healthy and PDAC tissue were retrogradely labeled and profiled by single‐cell RNA sequencing. Tumor‐associated innervation showed a dominant neurofilament‐positive subtype, altered mitochondrial gene signatures, and reduced non‐peptidergic neurons.
Elena Genova, Michele Montrone, Uday Rangaswamy, Francesco Diversi, Irene Schiavo, Denise Ferrarini, Roberta Di Florio, Irene Longo, Michele Coscia, Nicola Zamboni, Giorgia Demontis, Lisa Veghini, Vincenzo Corbo, Remo Sanges, Paul Heppenstall   +14 more
wiley   +1 more source

Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.

PLoS ONE, 2014
BackgroundThough rare in occurrence, patients with rare bleeding disorders (RBDs) are highly heterogeneous and may manifest with severe bleeding diathesis.
Bipin P Kulkarni, Sona B Nair, Manasi Vijapurkar, Leenam Mota, Sharda Shanbhag, Shehnaz Ali, Shrimati D Shetty, Kanjaksha Ghosh   +7 more
doaj   +1 more source

Two novel factor X gene mutations in a Chinese family with factor X deficiency

, 2004
We report a factor X (FX)-deficient Chinese family with two novel FX gene (F10) mutations. Two sibling probands had a bleeding tendency since childhood. Both had very low FX:C (
Kwong, YL, Cheung, WC, Au, WY, Lam, CCK
core   +1 more source