Results 101 to 110 of about 175,694 (206)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

CD11b+CD43hiLy6Clo splenocyte‐derived macrophages exacerbate liver fibrosis via spleen–liver axis

Hepatology, EarlyView., 2022
A population of splenic monocytes migrate into the liver and shift to macrophages, which account for the exacerbation of liver fibrosis. Abstract Background and Aims Monocyte‐derived macrophages (MoMFs), a dominant population of hepatic macrophages under inflammation, play a crucial role in liver fibrosis progression.
Shaoying Zhang, Dan Wan, Mengchen Zhu, Guihu Wang, Xurui Zhang, Na Huang, Jian Zhang, Chongyu Zhang, Qi Shang, Chen Zhang, Xi Liu, Fanfan Liang, Chunyan Zhang, Guangyao Kong, Jing Geng, Libo Yao, Shemin Lu, Yongyan Chen, Zongfang Li   +18 more
wiley   +1 more source

Re: Cosmetic incision for paediatric muscle biopsy. [PDF]

Ann R Coll Surg Engl
Burge T.
europepmc   +1 more source

Muscle Biopsy Findings in a Case of SARS-CoV-2-Associated Muscle Injury. [PDF]

J Neuropathol Exp Neurol, 2021
Hooper JE, Uner M, Priemer DS, Rosenberg A, Chen L.   +4 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Applicability of a serodiagnostic line blot for idiopathic inflammatory myopathy: the muscle biopsy is not all. [PDF]

Front Neurol
Fontana PN, da Silva VG, Corazzini R, Athayde NM, Ferreira da Silva AMD, Brockhausen I, Correia CDC, Sobreira CFDR, Tomaselli P, Petean F, de Oliveira R, Feitoza PV, Moraes Soane M, Saraiva N, Hidalgo R, Fideles C, Feder D, Carvalho AAS.   +17 more
europepmc   +1 more source

Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3‐deficient muscular dystrophy

Animal Models and Experimental Medicine, EarlyView.
We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp, Marlena Rohm, Gabriele Russo, Xavier Helluy, Abdulhadi Kocabas, Martijn Froeling, Felix Kleefeld, Denise Manahan‐Vaughan, Tobias Ruck, Frank Jacobsen, Matthias Vorgerd, Johannes Forsting, Lara Schlaffke   +12 more
wiley   +1 more source

Muscle Biopsy Sample Preparation and Proteomics Analysis Based on UHPLC-MS/MS. [PDF]

Bio Protoc
Du J, Hou J, Yun H, Song Y.
europepmc   +1 more source

Correction to: Muscle B mode ultrasound and shear-wave elastography in idiopathic inflammatory myopathies (SWIM): criterion validation against MRI and muscle biopsy findings in an incident patient cohort. [PDF]

BMC Rheumatol, 2022
Paramalingam S, Needham M, Harris S, O'Hanlon S, Mastaglia F, Keen H.   +5 more
europepmc   +1 more source

Porcine kidney xenotransplantation: From primate models to clinical reality

Animal Models and Experimental Medicine, EarlyView.
In the face of a critical shortage of human donor kidneys for end‐stage renal disease patients, porcine kidney xenotransplantation has emerged as a viable solution. This field has navigated major hurdles, including immune rejection, physiological incompatibilities, potential biomechanical differences and the risk of cross‐species infection. To overcome
Zihang Guo, Ling Zhang, Shoulong Deng, Chuan Qin   +3 more
wiley   +1 more source