Results 191 to 200 of about 412,177 (358)

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

1,3-Bis(2-chloroethyl)-1-nitrosourea (BCNU)-induced Pulmonary Fibrosis

, 1980
Robert G. Selker, Samuel A. Jacobs, Pearl Moore, Michael Wald, Edwin R. Fisher, Manfred M.D. Cohen, Peter A. Bellot   +6 more
openalex   +1 more source

Mental health burden in progressive pulmonary fibrosis and idiopathic pulmonary fibrosis: Depression and anxiety. [PDF]

Sarcoidosis Vasc Diffuse Lung Dis
Javorac J, Živanović D, Miladinović M, Mikić A, Dukanac V, Ilić M, Milenković A, Peričević Medić S, Popović T, Kašiković Lečić S.   +9 more
europepmc   +1 more source

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

The Effect of Indomethacin on the Bleomycin-Induced Pulmonary Fibrosis in the Rats [PDF]

, 1988
Dong Soon Kim, Ho Kee Yeom, Re Hwe Kim, Euy Geun Ham   +3 more
openalex   +1 more source

The Role of Particle Inhalation in Idiopathic Pulmonary Fibrosis. [PDF]

Int J Mol Sci
Ghio AJ, Sangani RG, Todd NW.
europepmc   +1 more source

Deficiency of DEK proto‐oncogene alleviates allergic rhinitis by inhibiting RhoA/Ezrin‐mediated mitochondrial fission

Animal Models and Experimental Medicine, EarlyView.
Schematic diagram of the mechanism of DEK regulating RhoA activation Ezrin. Upon house dust mite (HDM) stimulation, HDM‐specific immunoglobulin E (IgE) and inflammatory factors such as interleukin 4 (IL‐4), IL‐5, IL‐13, and eosinophils increased in the nasal mucosa.
Longzhu Dai, Yongde Jin, Jingmei Chai, Jianing Yang, Jiangang Wang, Mu Chen, Liangchang Li, Chongyang Wang, Guanghai Yan   +8 more
wiley   +1 more source

Idiopathic Pulmonary Fibrosis: Correlations between Bronchoalveolar Cellular Constituents and the Pathologic, Physiologic and Radiographic Features and Response to Treatment [PDF]

, 1989
S. H. Cho, S. D. Lee, Oh‐Jung Kwon, C. T. Lee, Hee Soon Chung, SungKoo Han, Y S Shim, K. Y. Kim, Yuanyuan Han, E. K. Ham   +9 more
openalex   +1 more source

Demystifying pulmonary fibrosis [PDF]

American Journal of Physiology-Lung Cellular and Molecular Physiology, 2020
openaire   +2 more sources

A mouse model of lung ischemia–reperfusion injury with reversible left hilar entrapment

Animal Models and Experimental Medicine, EarlyView.
A Novel Reversible Left Hilar Entrapment Model for Mouse Lung Ischemia‐Reperfusion Injury with Visual Tracheal Intubation and Live Knot Technique. Abstract Lung ischemia–reperfusion injury (LIRI), an acute lung injury syndrome triggered by lung transplantation or distal organ ischemia, has long been a difficult and hot issue in clinical research.
GuangDong Weng, Yao Chen, ShanQing Bao, ChengXin Zhang, WenHui Gong   +4 more
wiley   +1 more source