Fátima Pedrosa Domellöf

Desmin is not ubiquitously expressed in head and neck muscle fibers

PER S. STÅL, Jingxia Liu, Fátima Pedrosa Domellöf, Farhan Khalid Shah

Desmin, a major muscle-specific intermediate filament protein, is widely regarded as a ubiquitous component of mature skeletal muscle fibers. However, recent observations in human extraocular and palatal muscles indicate that a subset of fibers lack or show very weak desmin expression. The …

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Fhl2 identifies a Hedgehog-dependent myofibre population along the zebrafish midline with high regenerative potential and enhanced resilience in dystrophy

Jonas von Hofsten, Hanna Nord, Abraha Gebregziabher Kahsay, Nils Dennhag et autres

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Visual acuity outcomes up to 12 years and risk factors for visual impairment in a national cohort of extremely preterm born children – The Extremely Preterm Infants in Sweden Study ( EXPRESS )

Despoina Tsamadou, Karin Källén, Abbas ‎Al‐Hawasi, Ann Hellström et autres

PURPOSE: The Extremely Preterm Infants in Sweden Study (EXPRESS) followed a national cohort of extremely preterm born (EPT, i.e. <27 weeks) children until 12 years of age. This study aimed to investigate the longitudinal development of visual acuity (VA) in children born …

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Multiterminal En Plaque Motor Endplates in Extraocular Muscles Are Conserved Across Vertebrate Species

Jing‐Xia Liu, Abraha Gebregziabher Kahsay, Nils Dennhag, Jonas von Hofsten et autres

Purpose: We have previously described a novel type of multiterminal en plaque motor endplates in the human extraocular muscles (EOMs). This study aimed to investigate whether multiterminal en plaque motor endplates are conserved in EOMs among vertebrates. Methods: The motor endplates were …

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Five-Year Results With Patisiran for Hereditary Transthyretin Amyloidosis With Polyneuropathy

David H Adams, Jonas Wixner, Michael J. Polydefkis, John L. Berk et autres

Importance: There is a lack of long-term efficacy and safety data on hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) and on RNA interference (RNAi) therapeutics in general. This study presents the longest-term data to date on patisiran for hATTR-PN. Objective: To present the …

fr, se, us, pt, jp (code pays fourni par la source)

Extraocular Muscles: Extraocular Muscle Involvement in Disease

Fátima Pedrosa Domellöf

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fhl2b mediates extraocular muscle protection in zebrafish models of muscular dystrophies and its ectopic expression ameliorates affected body muscles

Nils Dennhag, Abraha Gebregziabher Kahsay, Itzel Nissen, Hanna Nord et autres

In muscular dystrophies, muscle fibers loose integrity and die, causing significant suffering and premature death. Strikingly, the extraocular muscles (EOMs) are spared, functioning well despite the disease progression. Although EOMs have been shown to differ from body musculature, the mechanisms underlying this …

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Obscurin Maintains Myofiber Identity in Extraocular Muscles

Abraha Gebregziabher Kahsay, Nils Dennhag, Jing‐Xia Liu, Hanna Nord et autres

Purpose: The cytoskeleton of the extraocular muscles (EOMs) is significantly different from that of other muscles. We aimed to investigate the role of obscurin, a fundamental cytoskeletal protein, in the EOMs. Methods: The distribution of obscurin in human and zebrafish EOMs was …

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fhl2b expression ameliorates muscular dystrophy

Nils Dennhag, Abraha Gebregziabher Kahsay, Itzel Nissen, Maria Chermenina et autres

Abstract In muscular dystrophies, muscle fibers loose integrity and die, leading to significant suffering and a shorter life. Strikingly, the extraocular muscles (EOMs), controlling eye movements, are spared and function well despite the disease progression. Although EOMs have been shown to have …

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Myofiber Type Shift in Extraocular Muscles in Amyotrophic Lateral Sclerosis

Arvin Behzadi, Anton Erik Tjust, Jing‐Xia Liu, Peter Munch Andersen et autres

Purpose: To investigate changes in myofiber composition in the global layer (GL) and orbital layer (OL) of extraocular muscles (EOMs) from terminal amyotrophic lateral sclerosis (ALS) donors. Methods: Medial recti muscles collected postmortem from spinal-onset ALS, bulbar-onset ALS, and healthy control donors …

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Aniridia-related keratopathy relevant cell signaling pathways in human fetal corneas

André Vicente, Marta Słoniecka, Jing‐Xia Liu, Berit Byström et autres

We aimed to study aniridia-related keratopathy (ARK) relevant cell signaling pathways [Notch1, Wnt/β-catenin, Sonic hedgehog (SHH) and mTOR] in normal human fetal corneas compared with normal human adult corneas and ARK corneas. We found that fetal corneas at 20 weeks of gestation …

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Genetic compensation between Pax3 and Pax7 in zebrafish appendicular muscle formation

Hanna Nord, Abraha Gebregziabher Kahsay, Nils Dennhag, Fátima Pedrosa Domellöf et autres

BACKGROUND: Migrating muscle progenitors delaminate from the somite and subsequently form muscle tissue in distant anatomical regions such as the paired appendages, or limbs. In amniotes, this process requires a signaling cascade including the transcription factor paired box 3 (Pax3). RESULTS: In …

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