Results 41 to 50 of about 1,654,869 (286)

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Atypical traumatic anterior shoulder instability with excessive joint laxity: recurrent shoulder subluxation without a history of dislocation

Journal of Orthopaedic Surgery and Research, 2018
Background No previously published studies have examined recurrent traumatic incomplete events in patients with excessive joint laxity. The purpose of this study is to investigate outcomes after arthroscopic stabilization for recurrent traumatic shoulder
Sung-Jae Kim, Chong-Hyuk Choi, Yun-Rak Choi, Wonyong Lee, Woo-Seok Jung, Yong-Min Chun   +5 more
doaj   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Joint laxity in the performing arts

South African Medical Journal, 2016
Traditional scoring systems for the assessment of joint flexibility are reviewed and reasons for variation in joint laxity are defined. The value of controlled joint laxity in the hands and arms of musicians is then discussed as well as the desirability of adjusting laxity at the various joints used in the different styles of dance, some of them ethnic,
openaire   +3 more sources

Correlation between quantitative pivot shift and generalized joint laxity: a prospective multicenter study of ACL ruptures [PDF]

, 2017
Purpose To investigate whether an increased magnitude of quantitative rotatory knee laxity is associated with a greater level of generalized joint laxity in ACL-injured and contralateral knees.
Volker Musahl, Ryosuke Kuroda, Karlsson, Jón, Kristian Samuelsson, Karlsson, JÃ3n, Irrgang, James J., Stefano Zaffagnini, Nicola Francesco Lopomo, Yuichi Hoshino, Kuroda, Ryosuke, Zaffagnini, Stefano, Hoshino, Yuichi, Samuelsson, Kristian, David Sundemo, Blom, Anna, null null, Lopomo, Nicola Francesco, Jón Karlsson, Sundemo, David, Musahl, Volker, Anna Blom, James J. Irrgang, 黒田, 良祐, クロダ, リョウスケ, ホシノ, ユウイチ, Samuelsson, Kristian,, Sundemo, David,, 星野, 祐一, Karlsson, Jón,   +28 more
core   +1 more source

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa, Bruna Fagundes Rodrigues Alaite, Vera Lúcia Gil‐da‐Silva‐Lopes, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Change in Ankle Joint Laxity and General Joint Laxity During the Menstrual Cycle

, 2020
Abstract Background: The purpose of the present study was to examine the relationship between ankle joint laxity and general joint laxity (GJL) in relation to the menstrual cycle, which was divided into four phases based on basal body temperature and ovulation, assessed using an ovulation kit.
Tomomi Yamasaki, Sae Maruyama, Yuki Sato, Yukako Suzuki, Sohei Shimizu, Fumiya kaneko, Masahiro Ikezu, Kanta Matsuzawa, Mutsuaki Edama   +8 more
openaire   +1 more source

Pelvic morphology and body size in relation to the preauricular sulcus: Evidence from medieval to modern Iberia

The Anatomical Record, EarlyView.
Abstract The preauricular sulcus has long been debated as a pelvic feature variably attributed to obstetric stress, ligamentous traction, and broader biomechanical processes. To clarify its determinants, we analyzed 409 adult individuals from three archeological and one early modern skeletal collection from the Iberian Peninsula, integrating graded ...
Rebeca García‐González, Julia Muñoz‐Guarinos, Nico Cirotto, Sonia Díaz‐Navarro, Laura Rodríguez, José Miguel Carretero   +5 more
wiley   +1 more source

Effectiveness of a prenatal pilates program on ligamentous laxity and joint hypermobility in pregnant women: a dual-center randomized controlled trial

BMC Pregnancy and Childbirth
Background Pregnancy-related anatomical and hormonal changes, including increased relaxin levels, may cause ligamentous laxity and joint hypermobility, while also contributing to decreased overall body mobility, potentially affecting functional stability.
Merve Bulguroglu, Halil Ibrahim Bulguroglu, Baran Degirmenci, Selcan Suicmez, Cansu Gevrek Aslan, Serenay Zorlu Develik, Nevin Atalay Guzel   +6 more
doaj   +1 more source

Muscle-Driven Total Knee Replacement Stability with Virtual Ligaments

Bioengineering
Knee joint stability comprises passive (ligaments), active (muscles), and static (articular congruency) contributors. The stability of total knee replacement (TKR) implants can be assessed pre-clinically using joint motion simulators.
Alexandre Galley, Emma Donnelly, Ilya Borukhov, Brent Lanting, Ryan Willing   +4 more
doaj   +1 more source