Results 81 to 90 of about 38,591 (268)

Physiopathological Implications of 7TM Receptors [PDF]

, 2010
Seven-transmembrane (7TM) receptors are one of the most important proteins involved in perception of extracellular stimuli and regulation of variety of intracellular signaling pathways.
Cygankiewicz, Adam
core   +1 more source

Single‐Nucleus RNA Sequencing Reveals Mid‐Gestational Neurodevelopment Features in the Superior Temporal Plane from Fetuses with Nonsyndromic Cleft Lip and Palate

Advanced Science, EarlyView.
Single‐nucleus RNA sequencing of mid‐gestation brains from fetuses with nonsyndromic cleft lip and palate reveals major disruptions in cell composition, cell‐to‐cell signaling, and gene regulation. The transcription factor MEF2C is identified as a central regulator of these changes and shows that lowering MEF2C impairs synapse formation, linking cleft ...
Liu‐Lin Xiong, Xin‐Wei Huang, Qiu‐Xia Xiao, Ying‐Gang Zheng, Hao‐Yue Qin, Chang‐Le Fang, Li Chen, Ruo‐Lan Du, Qiu‐Lin Wang, Li‐Ren Huangfu, Ye‐Qing Fei, Yang‐Yang Zhao, Chen‐Yang Zhai, Ze‐Mian Chen, Shi‐Kun Yuan, Yu‐Ji Zhou, Xing‐Man He, Ting‐Ting Zhi, Xiao‐He Tian, Ting‐Hua Wang   +19 more
wiley   +1 more source

Griscelli syndrome type 2: Rare 3 cases from Iraq

Iraqi Journal of Hematology
Griscelli syndrome (GS) is multisystem disorder of three subtypes, hereditary autosomal recessive diseases characterized by inborn silvery gray hair, partial skin albinism & immune deficiency. It was first reported by Griscelli et al. in 1978.
Mouroge Hashim AL Ani, Farah Samer Yahya
doaj   +1 more source

“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

Journal of Pediatric Research, 2018
Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu   +4 more
doaj   +1 more source

Rise and fall of Achille de Giovanni\u2019s clinical anthropometry [PDF]

, 2018
Achille de Giovanni (1838-1916), Italian clinician and pathologist, developed a constitutional method for clinical investigations based on the morphology of the human body.
Zampieri, Fabio
core  

New zebrafish models of neurodegeneration [PDF]

, 2015
In modern biomedicine, the increasing need to develop experimental models to further our understanding of disease conditions and delineate innovative treatments has found in the zebrafish (Danio rerio) an experimental model, and indeed a valuable asset ...
A Nasevicius, A Vaccaro, AE Schaffer, AJ Rennekamp, AM Stewart, B Schmid, Claire Russell, DI Shah, EM Caramillo, F Ivanes, F Mahmood, HQ Jiang, JB Phillips, JW Mink, K Wager, K Wager, KC Donnell, KL Cerveny, L Wang, M Bond, M Nguyen, Michelangelo Campanella, MK Lin, PR Kasher, Rebeca Martín-Jiménez, S Ajroud-Driss, TO Auer, VT Cunliffe, Y Namavar   +28 more
core   +2 more sources

AGAPIR: A Novel PIWI‐Interacting RNA Enhancing Post‐Decompression Angiogenesis in Degenerative Cervical Myelopathy

Advanced Science, EarlyView.
The restoration of blood flow following surgical decompression for degenerative cervical myelopathy (DCM) significantly contributes to the amelioration of neurological deficits. This study identifies AGAPIR, an angiogenesis‐associated PIWI‐interacting RNA, enhances angiogenesis and motor function recovery post‐spinal cord decompression in a mouse model
Yongheng Xie, Yiling Peng, Tianyu Qin, Cuimei Chen, Zhenxiao Ren, Naibo Feng, Chungeng Liu, Songlin Peng, Houqing Long   +8 more
wiley   +1 more source

Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea [PDF]

Diabetes & Metabolism Journal
Maternally inherited diabetes and deafness (MIDD) is a rare mitochondrial disorder primarily resulting from m.3243A>G mutation. The clinical characteristics of MIDD exhibit significant heterogeneity.
Eun Hoo Rho, Sang Ik Baek, Heerah Lee, Moon-Woo Seong, Jong-Hee Chae, Kyong Soo Park, Soo Heon Kwak   +6 more
doaj   +1 more source

Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients

Orphanet Journal of Rare Diseases, 2020
Background Fabry disease is a rare X-linked inherited disorder caused by deficiency of α-Galactosidase A. Hundreds of mutations and non-coding haplotypes in the GLA gene have been described; however, many are variants of unknown significance, prompting ...
Patrícia Varela, Gianna Mastroianni Kirsztajn, Fabiana L. Motta, Renan P. Martin, Lauro T. Turaça, Henrique L. F. Ferrer, Caio P. Gomes, Priscila Nicolicht, Maryana Mara Marins, Juliana G. Pessoa, Marion C. Braga, Vânia D’Almeida, Ana Maria Martins, João B. Pesquero   +13 more
doaj   +1 more source

The Virginia Sickle Cell Anemia Awareness Program: Education, Screening, and Counseling [PDF]

, 1977
In 1968, a program of screening for sickle trait carriers was begun as part of the work of the Hematology Division, Department of Medicine, at the Medical College of Virginia.
Cooper, Florence N., Scott, Robert B.
core   +1 more source