Results 101 to 110 of about 177,722 (252)

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Liposomal Delivery of L‐2‐Hydroxyglutarate for Targeting Epigenetic Dysregulation in Osteoarthritis

Advanced NanoBiomed Research, EarlyView.
Osteoarthritis involves cartilage degeneration, inflammation, and epigenetic dysregulation. A liposomal formulation of the TET1 inhibitor L‐2‐hydroxyglutarate to overcome rapid joint clearance was developed. The formulation showed good physicochemical properties, reduced inflammatory and catabolic gene expression in chondrocytes, and alleviated ...
Denise Murgia, Akshay Pandey, Raffaele Spanò, Bianca Martins Estevão, Roberto Palomba, Greta Avancini, Tamaghna Gupta, Ana Maria Lopez Estevez, Stuart B. Goodman, Nidhi Bhutani, Paolo Decuzzi   +10 more
wiley   +1 more source

Paleopathology of a putative colossosaurian caudal vertebra (Neosauropoda: Titanosauria) from the Presidente Prudente Formation, Brazil

The Anatomical Record, EarlyView.
Abstract Studies investigating paleopathologies in sauropods remain scarce despite their relative abundance in the fossil record. In this study we report new occurrence of paleopathological features, corresponding to a neoplasm found in a middle caudal vertebra (MCT.R.2120) of an advanced titanosaur from the Presidente Prudente Formation (Bauru Basin ...
Maria Luiza Peres Bertolossi, Kamila L. N. Bandeira, Roberta Veronese do Amaral, Arthur S. Brum, Rafael C. da Silva, Valéria Gallo   +5 more
wiley   +1 more source

A Study on Musculoskeletal Disorders and Personal and Occupational Risk Factors among Surgeons

علوم بهداشتی ایران, 2013
Background and purpose: Surgery is a high risk profession owing to musculoskeletal disorders (MSDs). Fine and precise operations cause surgeons to adopt prolonged fixed posture.
A Tirgar, Sh Khallaghi, M Taghipour
doaj  

Human evolution and the obstetrical dilemma: The pelvic floor hypothesis

The Anatomical Record, EarlyView.
Abstract Human childbirth is mechanically difficult because a large‐headed, broad‐shouldered fetus must pass through a comparatively narrow, twisted bony birth canal. Traditional explanations of this “obstetrical dilemma” emphasize the role of bipedal locomotion in inhibiting the evolution of a wider, more spacious pelvis.
Barbara Fischer, Ekaterina Stansfield
wiley   +1 more source

Influence of Psychiatric Comorbidities on Postoperative Outcomes Following Pediatric Medial Patellofemoral Ligament Reconstruction

Arthroscopy, Sports Medicine, and Rehabilitation, EarlyView.
Purpose To compare postoperative complications, rehabilitation outcomes, and health care utilization in children undergoing primary medial patellofemoral ligament reconstruction for patellofemoral instability with and without a pre‐existing mental illness. Methods The TriNetX U.S.
Haad A. Arif, Pearce Lane, Shamar T. Elliott, Amit Momaya, Kevin A. Williams   +4 more
wiley   +1 more source

Musculoskeletal disorders: does cuproptosis hold the key? [PDF]

Front Cell Dev Biol
Wang C, Liu D, Ye Y, Cui L, Gong S, Liu H, Xie S.   +6 more
europepmc   +1 more source