Results 101 to 110 of about 8,216,994 (285)

Nonketotic hyperglycinemia case series

Journal of Pediatric Neurosciences, 2015
To present three cases who presented with neonatal hiccups and who were later diagnosed with nonketotic hyperglycinemia (NKH).We present three babies who presented in neonatal life with hiccups who later were diagnosed with NKH. Two babies presented on the 2(nd) day of life with hypotonia, poor feeding, and abnormal movements including jitteriness ...
Iqbal, Mehtab, Prasad, Manish, Mordekar, Santosh R.   +2 more
openaire   +3 more sources

RIPK4 function interferes with melanoma cell adhesion and metastasis

Molecular Oncology, EarlyView.
RIPK4 promotes melanoma growth and spread. RIPK4 levels increase as skin lesions progress to melanoma. CRISPR/Cas9‐mediated deletion of RIPK4 causes melanoma cells to form less compact spheroids, reduces their migratory and invasive abilities and limits tumour growth and dissemination in mouse models.
Norbert Wronski, Sławomir Lasota, Ewelina Madej, Anna A. Brożyna, Małgorzata Szczygieł, Agnieszka Harazin‐Lechowska, Jan Czerbniak, Janusz Rys, Jaroslaw Czyz, Agnieszka Wolnicka‐Glubisz   +9 more
wiley   +1 more source

Harlequin Ichthyosis: Case series

Gynecology Obstetrics & Reproductive Medicine
Objective: Harlequin ichthyosis (HI) is an autosomal-recessive inherited disorder. The incidence is extremely rare and is reported to range from 1/300 000 to 1/1 000 000. Some risk factors include preterm births and consanguinity. Prenatal DNA testing for the ABCA12 mutation aids in diagnosis.
Huriye Ezveci, Şükran Doğru, Fatih Akkuş, Kazim Gezginc   +3 more
openaire   +2 more sources

COMP–PMEPA1 axis promotes epithelial‐to‐mesenchymal transition in breast cancer cells

Molecular Oncology, EarlyView.
This study reveals that cartilage oligomeric matrix protein (COMP) promotes epithelial‐to‐mesenchymal transition (EMT) in breast cancer. We identify PMEPA1 (protein TMEPAI) as a novel COMP‐binding partner that mediates EMT via binding to the TSP domains of COMP, establishing the COMP–PMEPA1 axis as a key EMT driver in breast cancer.
Konstantinos S. Papadakos, Gilar Gorji‐bahri, Lejla Gradjan, Julia Zajac, Kacper Gil, Yvonne Thokozile Nduku, Anna M. Blom   +6 more
wiley   +1 more source

Chondroid syringoma: case series

Journal of Surgical Case Reports
Abstract Chondroid syringoma (CS) is a rare benign cutaneous neoplasm originating from the exocrine glands, representing ⁓0.01% of all primary skin cancers. This report presents three cases of CS: one located at the infraorbital rim and two in the cheek region.
Imane Boujguenna, Sara Badja, Mounir Jaafari, Soufiane Abdouh, Fatima Boukis   +4 more
openaire   +2 more sources

Pre‐analytical optimization of cell‐free DNA and extracellular vesicle‐derived DNA for mutation detection in liquid biopsies

Molecular Oncology, EarlyView.
Pre‐analytical handling critically determines liquid biopsy performance. This study defines practical best‐practice conditions for cell‐free DNA (cfDNA) and extracellular vesicle–derived DNA (evDNA), showing how processing time, storage conditions, tube type, and plasma input volume affect DNA integrity and mutation detection.
Jonas Dohmen, Lucrezia De Santis, Bret M. Stephens, Vincent Bernard, Jörg C. Kalff, Lara Braun, Phillipp Leyendecker, Johannes Röttgen, Daniel Weissinger, Anirban Maitra, Paola A. Guerrero, Alexander Semaan   +11 more
wiley   +1 more source

Long-Term Success of Dental Implants in Atrophic Maxillae: A 3-Year Case Series Using Hydroxyapatite and L-PRF

Bioengineering
Dental implants are essential for the prosthetic rehabilitation of edentulous patients, requiring adequate bone volume and density for osseointegration and load support. The posterior region of the maxilla, commonly deficient in bone quality and quantity,
Marco Andre Lomba Alves, Jakson Both, Carlos Fernando Mourão, Bruna Ghiraldini, Fabio Bezerra, Jose Mauro Granjeiro, Suelen Cristina Sartoretto, Monica Diuana Calasans-Maia   +7 more
doaj   +1 more source

IMPDH inhibition enhances cytarabine efficacy in SAMHD1‐expressing leukaemia cells via guanine nucleotide depletion

Molecular Oncology, EarlyView.
Cytarabine is a key therapy for acute myeloid leukaemia (AML), but its efficacy is limited by the dNTPase SAMHD1, which hydrolyses its active metabolite. Screening nucleotide biosynthesis inhibitors revealed that IMPDH inhibitors selectively sensitise SAMHD1‐proficient AML cells to cytarabine.
Miriam Yagüe‐Capilla, Christopher Dirks, Caroline Eiden, Sonja K. Fesenmayer, Femke M. Hormann, Yolande Klootsema, Ingrid Lilienthal, Si Min Zhang, Nikolas Herold, Sean G. Rudd   +9 more
wiley   +1 more source

CASE Is Introducing Case Series [PDF]

CASE, 2019
Rodriguez, L. Leonardo, Zimmerman, Karen G.   +1 more
openaire   +2 more sources

Keratin 19 as a prognostic marker and contributing factor of metastasis and chemoresistance in high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Keratin 19 (KRT19) is overexpressed in high‐grade serous ovarian cancer with high levels of Kallikrein‐related peptidases (KLK) 4–7 and is associated with poor survival. In vivo analyses demonstrate that elevated KRT19 increases peritoneal tumour burden.
Sophia Bielesch, Isabel Vogel, Sina Nokodian, Johanna Moeller, Antonia Blechschmidt, Vicky Hecht, Vanessa Kuentzel, Katharina Thiedig, Melissa Schwab, Oliver Schilling, Holger Bronger, Marion Kiechle, Viktor Magdolen, Tobias Dreyer   +13 more
wiley   +1 more source