Results 41 to 50 of about 61,741 (331)

Recurrent Angioedema with Abdominal and Genital Involvement in Childhood: Hereditary Angioedema Type 2 Disease due to C1 Inhibitor Functional Deficiency

İstanbul Medical Journal, 2020
Hereditary angioedema is a rare disorder characterized by recurrent angioedema attacks due to C1 inhibitor antigen or functional deficiency. Here, two cases with recurrent swelling on extremities, genital organs and face that were later diagnosed with C1
Öner Özdemir, Halime Çiçek
doaj   +1 more source

The influence of trigger factors on hereditary angioedema due to C1-inhibitor deficiency [PDF]

, 2014
Background: Hereditary angioedema (HAE) resulting from C1-inhibitor deficiency is characterized by attacks of subcutaneous and submucosal edema. Many factors have been presumed to induce edema.
Csuka, Dorottya, Czaller I, Farkas, Henriette, Füst, György, Nébenführer, Zsuzsa, Szabó E, Temesszentandrási, György, Varga, Lilian, Zotter, Zsuzsanna   +8 more
core   +1 more source

Hereditary Angioedema due to C1-Inhibitor Deficiency in Pediatric Patients in Croatia – First National Study, Diagnostic and Prophylactic Challenges

Acta Clinica Croatica, 2019
Hereditary angioedema (HAE) is a rare autosomal dominant disease with deficiency (type I) or dysfunction (type II) of C1 inhibitor, caused by mutations in the C1-INH gene, characterized by recurrent submucosal or subcutaneous edemas including skin ...
Ljerka Karadža-Lapić, Marko Barešić, Renata Vrsalović, Irena Ivković-Jureković, Saša Sršen, Ingrid Prkačin, Matija Rijavec, Draško Cikojević   +7 more
doaj   +1 more source

Successful long-term prophylaxis of hereditary pregnancy-associated angioedema with plasma-derived C1-inhibitor concentrate: a case report

Медицинская иммунология, 2021
Hereditary angioedema (HAE) is a rare autosomal dominant disease caused by quantitative (type I) or functional (type II) deficiency in C1 esterase inhibitor (C1-INH). It may be caused by new mutations in up to 20% of patients.
D. V. Demina, A. O. Makeeva, L. M. Kudelya, E. V. Novikova, V. A. Kozlov   +4 more
doaj   +1 more source

On demand treatment and home therapy of hereditary angioedema in Germany - the Frankfurt experience [PDF]

, 2010
Background: Manifestation of acute edema in hereditary angioedema (HAE) is characterized by interindividual and intraindividual variability in symptom expression over time. Flexible therapy options are needed.
Aygören-Pürsün, Emel, Martinez Saguer, Inmaculada, Rusicke, Eva, Klingebiel, Thomas, Kreuz, Wolfhart   +4 more
core   +2 more sources

Successful C1 inhibitor short-term prophylaxis during redo mitral valve replacement in a patient with hereditary angioedema

Journal of Cardiothoracic Surgery, 2010
Hereditary angioedema is characterized by sudden episodes of nonpitting edema that cause discomfort and pain. Typically the extremities, genitalia, trunk, gastrointestinal tract, face, and larynx are affected by attacks of swelling.
Coleman Suzanne, Bernstein Jonathan A, Bonnin Arturo J   +2 more
doaj   +1 more source

Gut stem cell aging is driven by mTORC1 via a p38 MAPK-p53 pathway. [PDF]

, 2020
Nutrients are absorbed solely by the intestinal villi. Aging of this organ causes malabsorption and associated illnesses, yet its aging mechanisms remain unclear.
Chen, Ye-Guang, De Pinho, Ronald A, Habib, Samy L, He, Dan, Li, Baojie, Liu, Huijuan, Peng, Peike, Ruan, Xinsen, Ruan, Yuanyuan, Wang, Yibin, Wu, Hongguang, Xiang, Jinnan, Yu, Qiang, Zhang, Hongbing   +13 more
core  

Structural biology of ferritin nanocages

FEBS Letters, EarlyView.
Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley   +1 more source

Functional compartmentalization of Rad9 and Hus1 reveals diverse assembly of the 9-1-1 complex components during the DNA damage response in Leishmania [PDF]

, 2016
The Rad9-Rad1-Hus1 (9-1-1) complex is a key component in the coordination of DNA damage sensing, cell cycle progression and DNA repair pathways in eukaryotic cells. This PCNA-related trimer is loaded onto RPA-coated single stranded DNA and interacts with
Damasceno, Jeziel D., McCulloch, Richard, Obonaga, Ricardo, Santos, Elaine V., Scott, Alan, Tosi, Luiz R.O.   +5 more
core   +1 more source

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

FEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai, Mizuki Seo, Gyath Karadsheh, Fachrur Rizal Mahendra, Máté Á Demény, Ferenc Győry, János András Mótyán, László Fésüs, Endre Kristóf, Rini Arianti   +9 more
wiley   +1 more source