Results 31 to 40 of about 687,024 (308)

A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies

Frontiers in Cardiovascular Medicine, 2016
Titin (TTN) is known as the largest sarcomeric protein that resides within the heart muscle. Due to alternative splicing of TTN the heart expresses two major isoforms (N2B and N2BA) that incorporate four distinct regions termed the Z-line, I-band, A-band,
Marta Gigli, Marta Gigli, Rene Begay, Gaetano Morea, Gaetano Morea, Sharon Graw, Gianfranco Sinagra, Matthew Taylor, Henk Granzier, Luisa Mestroni   +9 more
doaj   +1 more source

circIFNGR2 regulating ankylosing spondylitis-associated inflammation through macrophage polarization

iScience, 2023
Summary: Macrophages activation is crucial in pathogenesis of rheumatic diseases like ankylosing spondylitis (AS). Circular RNAs (circRNAs)-induced macrophage-associated inflammation participates in many autoimmune diseases but remains elusive in AS ...
Minkai Song, Xiangyu Wang, Jiawen Gao, Weizhou Jiang, Enguang Bi, Taixue An, Ting Wang, Zishuo Chen, Weilu Liu, Zhanjun Shi, Jun Xiao, Chao Zhang   +11 more
doaj   +1 more source

Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families [PDF]

, 2008
Genetics & HereditySCI(E)0LETTER4391 ...
Zhai, S. Q., Liu, X Z, Feng, G Y, Angeli, S, Qin, W., Wang, Y. F., Feng, L, Feng, G. Y., Yang, S. Z., Han, D Y, Tao, R., Liu, X. Z., Yan, D., Ouyang, X. M., Yang, W Y, Yuan, H. J., Yang, S Z, Qin, W, Ouyang, X M, Dai, P, Yan, D, Yang, W. Y., Sun, H. J., Yuan, H J, Cheng, J, Feng, L., Cao, J. Y., Wang, Y F, Zhai, S Q, Sun, Q., He, L., Angeli, S., Sun, Q, Cao, J Y, Dai, P., Sun, H J, Han, D. Y., Cheng, J., Tao, R, He, L   +39 more
core   +1 more source

Complexities of Clinical Genetics Consultation: An Interprofessional Clinical Skills Workshop

MedEdPORTAL, 2020
Introduction Advances in genomic medicine contribute to increased demand for clinical genetics services and require physicians to understand the interprofessional practice of this field.
Jodi D. Hoffman, Rachel Thompson, Kathleen B. Swenson, Shoumita Dasgupta   +3 more
doaj   +1 more source

Retinoblastoma genetics screening and clinical management

BMC Medical Genomics, 2021
Background India accounts for 20% of the global retinoblastoma (RB) burden. However, the existing data on RB1 gene germline mutations and its influence on clinical decisions is minimally explored.
Himika Gupta, Sivasankar Malaichamy, Ashwin Mallipatna, Sakthivel Murugan, Nallathambi Jeyabalan, Vishnu Suresh Babu, Anuprita Ghosh, Arkasubhra Ghosh, Sam Santhosh, Somasekar Seshagiri, Vedam L. Ramprasad, Govindasamy Kumaramanickavel   +11 more
doaj   +1 more source

Clinical genetics in cardiology [PDF]

Heart, 2006
The recent and rapid development of molecular genetics in cardiovascular diseases has created a new understanding of their pathogenesis and natural history, and also new possibilities for the diagnosis of these genetic disorders through genetic testing.
openaire   +2 more sources

Gene expression of non-homologous end-joining pathways in the prognosis of ovarian cancer

iScience, 2023
Summary: Ovarian cancer is the deadliest gynecologic malignancy in women, with a 46% five-year overall survival rate. The objective of the study was to investigate the effects of non-homologous end-joining (NHEJ) genes on clinical outcomes of ovarian ...
Ethan S. Lavi, Z. Ping Lin, Elena S. Ratner   +2 more
doaj   +1 more source

variant causes a lethal mitochondrial disease with progeria‐like phenotypes [PDF]

, 2023
APOO/MIC26 is a subunit of the MICOS complex required for mitochondrial cristae morphology and function. Here, we report a novel variant of the APOO/MIC26 gene that causes a severe mitochondrial disease with overall progeria-like phenotypes in two ...
Melissa Lubeck, Nemer, Georges M., Reichert, Andreas S., Lubeck, Melissa, Anand, Ruchika, Arun Kumar Kondadi, Kondadi, Arun Kumar, Leon Peifer‐Weiß, Andreas S. Reichert, Mazen Kurban, Peifer-Weiss, Leon, David, Céline, Georges Nemer, Céline David, Kurban, Mazen S., Ruchika Anand   +15 more
core   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Health‐Related Social Needs in Children With Sickle Cell Disease Are Associated With Worse Health‐Related Quality of Life

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Children with sickle cell disease (SCD) face multiple acute and chronic medical complications that may impact their quality of life as reported by patients themselves. Health‐related social needs (HRSNs), such as food and housing insecurity, are common in people with SCD, but the association between HRSNs and patient‐reported ...
Sarah J. Marks, Molly Sonenklar, Cerelia Donald, Cecelia Valrie, Wally Smith, India Sisler   +5 more
wiley   +1 more source