Results 51 to 60 of about 257,574 (163)
The Journal of Physiology, EarlyView.Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise +2 more
wiley +1 more source
The genetics of congenital isolated ptosis
, 2002 The first part of this study focused on a large, previously unreported pedigree with dominantly inherited bilateral congenital isolated ptosis. The pedigree was assessed clinically and tested for linkage to the only previously known isolated ptosis ...
McMullan, Tristan Francis Wallace
core +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
Journal of Bahria University Medical and Dental College, 2016 Primary congenital ptosis usually presents at the time of birth and is due to poor development of levator muscles.The frontalis brow suspension technique is being used for patients with severe congenital ptosis and a levator function of 4 mm or less ...
Kashif Ali +3 more
doaj
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Managing Marcus Gunn Ptosis - Our Approach
Delhi Journal of Ophthalmology, 2017 Marcus Gunn ptosis is a congenital synkinetic ptosis due to an abnormal innervation of the levator muscle. Aim of the surgical treatment is to eliminate jaw winking phenomenon and correct ptosis. Moderate to severe jaw winking ptosis is best corrected by
A. K. Grover, Shaloo Bageja
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Transconjunctival levator muscle plication in mild to moderate congenital ptosis
Delta Journal of Ophthalmology, 2020 Purpose The aim of this study was to evaluate the efficacy, cosmetic result, and safety of transconjunctival plication of the levator muscle in the correction of simple congenital ptosis.
Mohammad E Abdel Fattah +3 more
doaj +1 more source
Long-term outcome of strabismus and ptosis surgery in a mother and daughter with congenital fibrosis of extraocular muscles [PDF]
Vojnosanitetski Pregled, 2006 Background. Congenital fibrosis of extraocular muscles (CFEOM) is a very rare congenital condition, characterized by variable amounts of restriction of the extraocular muscles, with or without ptosis.
Zdravković Ivana +4 more
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Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature
Clinical Genetics, Volume 110, Issue 4, Page 480-486, October 2026.Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi +6 more
wiley +1 more source