Results 31 to 40 of about 520 (132)

Cullin-3 Dependent Deregulation of ACTN1 Represents a New Pathogenic Mechanism in Nemaline Myopathy [PDF]

JCI Insight, 2019
Nemaline myopathy is a congenital neuromuscular disorder characterized by muscle weakness, fiber atrophy, and presence of nemaline bodies within myofibers. However, understanding of the underlying pathomechanisms is lacking.
Blondelle, Jordan, Laitila, Jenni, Seto, Jane T., Seto, Jane, Lange, Stephan,, Tallapaka, Kavya, Lange, Stephan, Singer, Jeffrey D., Laitila, Jenni M., Bournazos, Adam, Ghassemian, Majid, Singer, Jeffrey, Clark, Madison   +12 more
core   +3 more sources

Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations [PDF]

Skeletal Muscle, 2014
Background: Nemaline myopathy (NM) is a rare genetic muscle disorder, but one of the most common among the congenital myopathies. NM is caused by mutations in at least nine genes: Nebulin (NEB), alpha-actin (ACTA1), alpha-tropomyosin (TPM3), beta ...
Marttila, Minttu, Lemola, Elina, Laitila, Jenni, Pelin, Katarina, Minttu Marttila, Nowak, Kristen J., Wallgren-Pettersson, Carina, Mikaela Grönholm, Gronholm, Mikaela, Elina Lemola, Kristen J Nowak, Carina Wallgren-Pettersson, Jenni Laitila, Katarina Pelin, Mubashir, Hanif, Mubashir Hanif   +15 more
core   +3 more sources

Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures

Clinical Genetics, Volume 105, Issue 6, Page 596-610, June 2024.
Expanding the phenotypic and molecular spectrum in lethal arthrogryposis. Abstract Multiple congenital contractures (MCC) due to fetal akinesia manifest across a broad spectrum of diseases, ranging from mild distal arthrogryposis to lethal fetal akinesia deformation sequence.
Gozde Tutku Turgut, Umut Altunoglu, Cagri Gulec, Tugba Sarac Sivrikoz, Tuğba Kalaycı, Guven Toksoy, Şahin Avcı, Behiye Tuğçe Yıldırım, Gözde Yeşil Sayın, Ibrahim Halil Kalelioglu, Birsen Karaman, Recep Has, Seher Başaran, Atil Yuksel, Hülya Kayserili, Zehra Oya Uyguner   +15 more
wiley   +2 more sources

Nemaline myopathies: a current view [PDF]

Journal of Muscle Research and Cell Motility, 2019
Nemaline myopathies are a heterogenous group of congenital myopathies caused by de novo, dominantly or recessively inherited mutations in at least twelve genes. The genes encoding skeletal α-actin (ACTA1) and nebulin (NEB) are the commonest genetic cause.
Laitila, Jenni M., Wallgren-Pettersson, Carina, Sewry, Caroline A.   +2 more
core   +2 more sources

Mapping the stage-specific plasma p53 interactome reveals colorectal cancer progression signatures and therapeutic vulnerabilities. [PDF]

J Liq Biopsy
Colorectal cancer (CRC) is the third leading cause of cancer-related deaths worldwide, yet the molecular changes that occur in the bloodstream as the disease advances remain poorly understood.
Natarajan RA, Kaliyamoorthy S, Boopathi V, Ramasamy J, Sambandam R.   +4 more
europepmc   +2 more sources

Genes ingenuity pathway analysis unveils smoothelin‐like 1 (SMTNL1) as a key regulatory protein involved in sodium pentobarbital‐induced growth inhibition in breast cancer

Pharmacology Research &Perspectives, Volume 11, Issue 6, December 2023., 2023
We previously reported that sodium pentobarbital inhibited the growth of breast cancer associated with the normalization of microcirculatory hemodynamics and oxygenation. Here we aimed to screen the key regulatory proteins involved in this process. Liquid chromatography linked to tandem mass spectrometry was used to analyze the difference in protein ...
Bingwei Li, Xiaoyan Zhang, Xueting Liu, Ailing Li, Jianqun Han   +4 more
wiley   +1 more source

Muscle magnetic resonance imaging involvement patterns in nemaline myopathies

Annals of Clinical and Translational Neurology, Volume 10, Issue 7, Page 1219-1229, July 2023., 2023
Abstract Objective Characterise the diagnostic and prognostic value of muscle MRI patterns as biomarkers in a genetically heterogeneous nemaline myopathy (NM) patient cohort. Methods Modified Mercuri scoring of lower limb MRI in genetically characterised NM patients referred to the highly specialised service for congenital myopathies at Great Ormond ...
Luke Perry, Georgia Stimpson, Leeha Singh, Jasper M. Morrow, Sachit Shah, Giovanni Baranello, Francesco Muntoni, Anna Sarkozy   +7 more
wiley   +1 more source

The genetic basis of pemphigus vulgaris

JEADV Clinical Practice, Volume 2, Issue 2, Page 203-212, June 2023., 2023
Abstract The severe autoimmune blistering disease pemphigus vulgaris (PV) is most probably mainly due to autoantibodies directed against desmosomal components of the epithelium, disrupting cell‐cell adhesion. The precise mechanisms underlying the development of the disease are still unknown, and immunosuppressive medications such as corticosteroids ...
Dan Vodo, Eli Sprecher
wiley   +1 more source

Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)

Human Mutation, Volume 43, Issue 9, Page 1224-1233, September 2022., 2022
Abstract Nemaline myopathies (NEMs) are genetically and clinically heterogenous. Biallelic or monoallelic variants in TNNT1, encoding slow skeletal troponin T1 (TnT1), cause NEM. We report a 2‐year‐old patient and his mother carrying the heterozygous TNNT1 variant c.194A>C/p.(Asp65Ala) that occurred de novo in the mother. Both had muscle hypotrophy and
Tess Holling, Jasmin Lisfeld, Jessika Johannsen, Jakob Matschke, Feizhi Song, Hermann Clemens Altmeppen, Kerstin Kutsche   +6 more
wiley   +1 more source

Integrated Analysis of the lncRNA‐Associated ceRNA Network in Wilms Tumor via TARGET and GEO Databases

Genetics Research , Volume 2022, Issue 1, 2022., 2022
Wilms tumor (WT) is the most common genitourinary renal tumor that typically occurs in children under 15 and is thought to be linked to somatic and germline mutations. However, the specific functional role of competing endogenous RNAs (ceRNAs) and their potential implications in WT remain unclear.
Biao An, Yuan Hu, Xiao Liang, Yaying Sun
wiley   +1 more source