Results 61 to 70 of about 207,089 (284)

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

Association of sperm DNA fragmentation index with semen quality and ART outcomes: real-world evidence from a retrospective cohort

Basic and Clinical Andrology
Background Sperm DNA fragmentation index (DFI) has emerged as a potential marker of male fertility, but its clinical value in assisted reproductive technology (ART) remains debated.
Chaofeng Wei, Qihui Liang, Danqi Liu, Yi Yu, Yihe Wei, Yuan Li, Haicui Wu, Fang Lian   +7 more
doaj   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

The First CDH1 Gene Mutation Gastric Cancer Case in Kazakhstan: Implications for Genetic Screening; A Letter to the Editor [PDF]

Iranian Journal of Medical Sciences
Despite significant advances in medicine, food preservation methods, and Helicobacter pylori (H. pylori) treatment, gastric cancer remains the fifth most common type of cancer and the fourth leading cause of cancer-related deaths worldwide, accounting ...
Marzhan Aitmagambetova, Anar Tulyayeva, Arip Koishybaev, Elena Zholdybayeva, Saule Balmagambetova, Nurgul Kereyeva, Dinara Zholmukhamedova, Nurgul Ablakimova   +7 more
doaj   +1 more source

Evolutionary Strategies for Body Size

Frontiers in Endocrinology, 2020
Humans show marked variation in body size around the world, both within and among populations. At present, the tallest people in the world are from the Netherlands and the Balkan countries, while the shortest populations are central African Pygmies ...
Michael A. Little
doaj   +1 more source

Incidence of different pressure patterns of spinal cerebellar ataxia and analysis of imaging and genetic diagnosis

Open Life Sciences, 2023
Neurologists have a difficult time identifying sporadic cerebellar ataxia. Multiple system atrophy of the cerebellar type (MSA-C), spontaneous late cortical cerebellar atrophy, and prolonged alcohol use are a few possible causes.
Peng Yufen, Tu Qi, Han Yao, Gao Liang, Wan Chenyi   +4 more
doaj   +1 more source

Extending the Modern Synthesis: The evolution of ecosystems [PDF]

, 2010
The Modern Evolutionary Synthesis formalizes the role of variation, heredity, differential reproduction and mutation in population genetics. Here we explore a mathematical structure, based on the asymptotic limit theorems of information theory, that ...
Rodrick Wallace
core   +2 more sources

On quasi-heredity and cell module homomorphisms in the symplectic blob algebra

, 2017
This paper reports key advances in the study of the representation theory of the symplectic blob algebra. For suitable specialisations of the parameters we construct four large families of homomorphisms between cell modules.
Green, Richard, Martin, Paul, Parker, Alison   +2 more
core   +1 more source

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +1 more source

Effect of estrogen exposure on pregnancy outcomes in artificial frozen-thawed embryo transfer cycles

Gynecological Endocrinology
In contemporary times, the employment of vitrification freezing technology has led to the widespread adoption of frozen-thawed embryo transfer (FET) worldwide. Meanwhile, hormone replacement therapy (HRT) is a crucial protocol for priming the endometrium
Chaofeng Wei, Haicui Wu, Yi Yu, Yuan Li, Shan Xiang, Fang Lian   +5 more
doaj   +1 more source