Results 41 to 50 of about 52,020 (257)

Papillon-Lefevre Syndrome In An Adolescent Female: A Case Study [PDF]

Journal of Clinical and Diagnostic Research, 2015
Papillon-Lefevre Syndrome (PLS) is a rare inherited autosomal-recessive condition with one-third of the patients’ showing consanguinity of the parents. Lesions are characterised by palmar-plantar hyperkeratosis and hyperhidrosis.
M.J. Jijin, H.P.Jaishankar, Veena Sathya Narayaran, Krupashankar Rangaswamy, Kavitha Ankanathapura Puthaswamy   +4 more
doaj   +1 more source

The long-term prognosis of epilepsy patients with medically treated over a period of eight years in Turkey. [PDF]

, 2017
OBJECTIVE:The aim of this study was to investigate the effect of demographic and clinical characteristics on temporal changes in seizure control and frequency in medically treated epilepsy patients to guide treatment modalities.
Duman, Pelin, Kurum, Esra, Varoglu, Asuman Orhan   +2 more
core   +1 more source

Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression

Molecular Oncology, EarlyView.
In this explorative study, the abundance of circular RNA molecules in bone marrow stem cells was found to be elevated in patients with high‐risk myelodysplastic neoplasms, and to be associated with an increased risk of progression to acute myeloid leukemia.
Eileen Wedge, Morten Tulstrup, Gabriele Todisco, Pedro Moura, Christophe Côme, Jakob Werner Hansen, Jakob Schmidt Jespersen, Balthasar Schlotmann, Maria Creignou, Mette Dahl, Claudia Schöllkopf, Klas Raaschou‐Jensen, Krister Wennerberg, Bo Porse, Joachim Weischenfeldt, Eva Hellström‐Lindberg, Lasse Sommer Kristensen, Kirsten Grønbæk   +17 more
wiley   +1 more source

Study of the impact of consanguinity on abortion and mortality in the population of Beni Abbes (southwestern Algeria)

Egyptian Journal of Medical Human Genetics, 2019
Background Despite the numerous studies confirming the involvement of consanguinity in health problems, some populations around the world continue to practice this marital behavior.
Said Bachir, Ammaria Aouar
doaj   +1 more source

Differential regulation of ZFAS1 splice variants by endoplasmic reticulum stress in hepatocyte cell lines

FEBS Open Bio, EarlyView.
ZFAS1 is a lncRNA promoting cell proliferation and migration, exhibiting high expression in various cancers. It is conserved, widely expressed, and produces multiple splice variants with unclear roles. We identified several splice variants in hepatocyte models, and found that inhibiting or suppressing regulators of the unfolded protein response (PERK ...
Sébastien Soubeyrand, Paulina Lau, Ruth McPherson   +2 more
wiley   +1 more source

Expanding Chemical Space of Nucleic Acid Nanoparticles for Tunable Antiviral‐Like Immunomodulatory Responses and Potent Adjuvant Activity

Advanced Functional Materials, EarlyView.
We introduce a nucleic acid nanoparticle (NANP) platform designed to be rrecognized by the human innate immune system in a regulated manner. By changing chemical composition while maintaining constant architectural parameters, we identify key determinants of immunorecognition enabling the rational design of NANPs with tunable immune activation profiles
Martin Panigaj, Hannah S. Newton, Jian Wang, Laxmi Pandey, Yelixza I. Avilla, Phong Nguyen, Morgan Chandler, Justin Halman, Yasmine Radwan, Stephanie Smith, Elijah Edmondson, Simone Difilippantonio, Chelsea Sanders, Bao Tran, Yongmei Zhao, Shaojun Xie, Edward Cedrone, Barry W. Neun, Meni Wanunu, Nikolay V. Dokholyan, Marina A. Dobrovolskaia, Kirill A. Afonin   +21 more
wiley   +1 more source

Consanguinity, complex diseases and congenital disabilities in the Souss population (Southern Morocco): a cross-sectional survey

Egyptian Journal of Medical Human Genetics
Background Several studies showed that the perpetuation of consanguinity increases homozygosity and homogenizes the population's gene pool. This allows the expression of recessive deleterious mutations and increases the prevalence of genetic disorders ...
Noura Dahbi, Abderrazak El khair, Khadija Cheffi, Lamiaa Habibeddine, Jalal Talbi, Abderraouf Hilali, Hicham El ossmani   +6 more
doaj   +1 more source

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]

, 2017
Heritable forms of ichthyoses, also referred to as generalized Mendelian disorders of cornification, are phenotypically a highly heterogeneous group of conditions caused by mutations in a number of genes playing a role in keratinocyte differentiation ...
Abiri, Maryam, Barzegar, Mohammadreza, Fortina, Paolo, Karamzadeh, Razieh, Mansouri, Parvin, Mccormick, Kevin, Mohammadi asl, Javad, Saeidian, Amir Hossein, Sotoudeh, Soheila, Uitto, Jouni, Vahidnezhad, Hassan, Youssefian, Leila, Zeinali, Sirous   +12 more
core   +1 more source

An Engineered Living Material With Pro‐Angiogenic Activity Inducible by Near‐Infrared Light

Advanced Functional Materials, EarlyView.
NIR‐responsive engineered living materials (ELMs) for controlled angiogenesis: Near‐infrared (800 nm) light activates engineered probiotic bacteria within alginate‐based living materials to secrete a blood vessel‐regenerating protein. The released protein promotes pro‐angiogenic effects in endothelial networks and chick chorioallantoic membranes.
Anwesha Chatterjee, Stefanie S. M. Meier, Sara Trujillo, Andreas Möglich, Shrikrishnan Sankaran   +4 more
wiley   +1 more source

Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas, Brazil

Journal of Inborn Errors of Metabolism and Screening, 2015
In this 25-year retrospective study, we analyzed data from 200 medical records concerning diagnosis, consanguinity, and geographic origin from probands with autosomal recessive inborn errors of metabolism in a reference service based in Campinas, Brazil.
Cristiano Guimarães Kozuki, Carlos Eduardo Steiner MD, PhD   +1 more
doaj   +1 more source