Results 51 to 60 of about 7,423 (270)

Development of an advanced therapy medicinal product for the treatment of limbal stem cell deficiency in EEC patients

, 2022
reservedLa sindrome EEC è causata da mutazioni puntiformi in eterozigosi che colpiscono il dominio di legame al DNA del fattore di trascrizione p63.
PIAIA, MORENO
core  

EEC syndrome (ectrodactyly-ectodermal dysplasia-clefting): A clinical case report

, 2021
The EEC syndrome (ectrodactyly-ectodermal dysphasia-clefting) is defined as a multiple congenital anomaly syndrome characterized by ectodermal dysplasia, distal limb anomaly; cleft lip/palate, and lacri man duct anomalies.
Bilgin, T, Yalcin, S, Ulukapi, I
core  

The p63 gene in EEC and other syndromes [PDF]

Journal of Medical Genetics, 2002
Several autosomal dominantly inherited human syndromes have recently been shown to result from mutations in the p63 gene. These syndromes have various combinations of limb malformations fitting the split hand-split foot spectrum, orofacial clefting, and ectodermal dysplasia.
Brunner, H.G., Hamel, B.C.J., Bokhoven, J.H.L.M. van   +2 more
openaire   +3 more sources

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Ethanol Extract of Caesalpinia decapetala Inhibits Influenza Virus Infection In Vitro and In Vivo

Viruses, 2020
Influenza virus infections can lead to viral pneumonia and acute respiratory distress syndrome in severe cases, causing significant morbidity and mortality and posing a great threat to human health. Because of the diversity of influenza virus strains and
Li Zhang, Jungang Chen, Chang Ke, Haiwei Zhang, Shoujun Zhang, Wei Tang, Chunlan Liu, Ge Liu, Si Chen, Ao Hu, Wenyu Sun, Yu Xiao, Minli Liu, Xulin Chen   +13 more
doaj   +1 more source

Effects of the Fluid Replacement Method During Online Hemodiafiltration on the Solute Removal Performance and Biocompatibility Using the Asymmetric Cellulose Triacetate Membrane

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Pre‐dilution online hemodiafiltration (Pre‐HDF) is predominantly used in Japan, whereas post‐dilution online HDF (Post‐HDF) is more common in Europe. An asymmetric cellulose triacetate (ATA) membrane may improve biocompatibility.
Kenji Sakurai, Yoshitaka Kurihara, Fumi Yamauchi, Hiromi Hosoya, Takeshi Saito   +4 more
wiley   +1 more source

Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts.

, 2002
Contains fulltext : 120683.pdf (Publisher’s version ) (Open Access)EEC syndrome is an autosomal dominant disorder with the cardinal signs of ectrodactyly, ectodermal dysplasia, and orofacial clefts.
Beersum, S.E.C. van, Daack-Hirsch, S., Murray, J.C., Gorlin, R., Andersen, T., Barrow, L.L., Bokhoven, J.H.L.M. van   +6 more
core   +1 more source

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype

Clinical Case Reports, 2018
Key Clinical Message We report a patient who was followed for a long time under an ectrodactyly ectodermal dysplasia‐clefting (EEC) syndrome and was subsequently diagnosed with a 19q13.11 microdeletion.
Kikue Terada Abe, Isabela M. P. O. Rizzo, Ana L. V. Coelho, Nilo Sakai Jr, Daniel R. Carvalho, Carlos E. Speck‐Martins   +5 more
doaj   +1 more source

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source