Results 241 to 250 of about 969,017 (358)

RNA binding protein RBM20 regulates turtle temperature-dependent sex determination by repressing the splicing of <i>Wt1</i> KTS. [PDF]

Sci Adv
Sun W, Yang H, Hui H, Bai J, Fang Y, Wang X, Chen Q, Wang Z, Ge C.   +8 more
europepmc   +1 more source

Effects of Biological Sex and Age on Cerebrospinal Fluid Markers—A Retrospective Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cerebrospinal fluid (CSF) analysis is a key diagnostic tool for neurological diseases. To date, only a few studies have investigated in larger cohorts the effect of age and biological sex on diagnostic markers extracted from CSF. Methods For this retrospective observational study, 4163 CSF findings (2012–2020) were evaluated.
Isabel‐Sophie Hafer, Simon Faissner, Ralf Gold, Aiden Haghikia   +3 more
wiley   +1 more source

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

Heterozygosity at a conserved candidate sex determination locus is associated with female development in the clonal raider ant (<i>Ooceraea biroi</i>). [PDF]

Elife
Lacy KD, Lee J, Rozen-Gagnon K, Wang W, Carroll TS, Kronauer DJC.   +5 more
europepmc   +1 more source

Clinical Spectrum and Outcomes of SOX1 Antibody‐Associated Paraneoplastic Neurological Syndromes: A Chinese Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye, Zu‐Ying Kuang, Bo Li, Meng‐Qiu Pan, Li‐Hua Zhou, Yang‐Yang Dai, Si‐Fen Xie, Xian‐Guang Lin, Ye‐Peng Hu, Li‐Hong Jiang, Zhan‐Hang Wang, Wei‐Jing Zhang   +11 more
wiley   +1 more source

Development of a Discriminant Function Model for Sex Determination From the Anterior Border of the Hip Bone: A Pilot Study on a North Indian Sample. [PDF]

Cureus
Sharma D, Prakarti, Sharma SP, Kumar S.
europepmc   +1 more source

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

Sharks and rays have the oldest vertebrate sex chromosome with unique sex determination mechanisms. [PDF]

Proc Natl Acad Sci U S A
Niwa T, Uno Y, Ohishi Y, Kadota M, Aburatani N, Kiyatake I, Katooka D, Yorozu M, Tsuzuki N, Toyoda A, Takagi W, Nakamura M, Kuraku S.   +12 more
europepmc   +1 more source

Sex determination by mandibular ramus: A digital orthopantomographic study

, 2016
SujataMohan Byahatti, K Samatha, Renuka Ammanagi, Praveena Tantradi, Chandan Kaur Sarang, Prachi Shivpuje   +5 more
openalex   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source