Results 101 to 110 of about 1,639,589 (408)

An Empirical Biomarker-based Calculator for Autosomal Recessive Polycystic Kidney Disease - The Nieto-Narayan Formula [PDF]

, 2016
Autosomal polycystic kidney disease (ARPKD) is associated with progressive enlargement of the kidneys fuelled by the formation and expansion of fluid-filled cysts. The disease is congenital and children that do not succumb to it during the neonatal period will, by age 10 years, more often than not, require nephrectomy+renal replacement therapy for ...
arxiv   +1 more source

Intermediate Filament Protein BFSP1 Maintains Oocyte Asymmetric Division by Modulating Spindle Length

Advanced Science, EarlyView.
Different from mitosis, the female meiosis undergoes asymmetric division that produces haploid oocytes and polar body, which is essential for retaining maternal components to support subsequent fertilization and embryo development. However, the underlying mechanisms are still largely unknown.
Yu Li, Hanwen Zhang, Wenjun Zeng, Yilong Miao, Shaochen Sun, Yu Zhang, Bo Xiong   +6 more
wiley   +1 more source

Amelogenesis Imperfecta - An account of Three Generations affected in a Family

Journal of Indian Academy of Oral Medicine and Radiology, 2004
Amelogenesis Imperfecta is a hereditary condition affecting dental enamel without any systemic manifestation. This condition can be inherited as either Autosomal or X-linked.
G Sarat, Arindam Sarkar, S Suhas, Keerthilatha M Pail   +3 more
doaj  

Tolvaptan in patients with autosomal dominant polycystic kidney disease.

New England Journal of Medicine, 2012
BACKGROUND The course of autosomal dominant polycystic kidney disease (ADPKD) is often associated with pain, hypertension, and kidney failure. Preclinical studies indicated that vasopressin V(2)-receptor antagonists inhibit cyst growth and slow the ...
V. Torres, A. Chapman, O. Devuyst, R. Gansevoort, J. Grantham, E. Higashihara, R. Perrone, H. Krasa, J. Ouyang, F. Czerwiec   +9 more
semanticscholar   +1 more source

EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways

Advanced Science, EarlyView.
EFTUD2, a spliceosomal GTPase linked to MFDM, regulates cortical development through apoptotic control. Conditional Eftud2 knockout in murine neural stem cells induces microcephaly and cortical disorganization, while pathogenic variants drive neuronal loss.
Liping Chen, Ying Li, Yan Yu, Mingze Cai, Hao Li, Minghe Huang, Guochao Yang, Jiageng Guo, Huailin Wang, Zhihong Song, Wei Shen, Huihui Jiang, Haitao Wu   +12 more
wiley   +1 more source

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs [PDF]

, 2017
Purpose: Our goal was to design a customized microarray, arrEYE, for high-resolution copy number variant (CNV) analysis of known and candidate genes for inherited retinal dystrophy (iRD) and retina expressed noncoding RNAs (ncRNAs).
Bauwens, Miriam, Cannoodt, Robrecht, Coppieters, Frauke, De Baere, Elfride, De Jaegere, Sarah, Leroy, Bart, Menten, Björn, Sante, Tom, Steyaert, Wouter, Van Cauwenbergh, Caroline, Van Laethem, Thalia, Van Schil, Kristof   +11 more
core   +2 more sources

Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2

Frontiers in Physiology, 2016
Extracellular calcium is essential for life and its concentration in the blood is maintained within a narrow range. This is achieved by a feedback loop that receives input from the calcium-sensing receptor (CASR), expressed on the surface of parathyroid ...
K. L. Roszko, R. Bi, M. Mannstadt
semanticscholar   +1 more source

A genomic dominion with regulatory dependencies on human-specific single-nucleotide changes in Modern Humans [PDF]

arXiv, 2019
Gene set enrichment analyses of 8,405 genes linked with 35,074 human-specific (hs) regulatory single-nucleotide changes (SNCs) revealed the staggering breadth of significant associations with morphological structures, physiological processes, and pathological conditions of Modern Humans.
arxiv  

Pyroptosis‐Inducing Platinum(IV) Prodrugs via GSDME Pathway for Chemoimmunotherapy and Metastasis Inhibition in Triple‐Negative Breast Cancer

Advanced Science, EarlyView.
Three PtIV prodrugs MRP, DRP, and HRP are designed to induce pyroptosis in low GSDME‐expressing tumor cells via the Caspase‐3/GSDME pathway. By relaxing chromatin and reactivating GSDME, HRP can effectively induce pyroptosis, enhance pro‐inflammatory cytokine production, and exhibit potent antitumor effects.
Xinda Yang, Chuansheng Xu, Youliang Zeng, Chunhui Wang, Yan Gao, Jie Ding, Sirui Chen, Yuheng Pan, Xin Zhang, Zongwan Mao, Shuo Shi   +10 more
wiley   +1 more source