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31 results

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Page 1
Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome.
Cho KH, Shim SH, Kim M. Cho KH, et al. Clin Genet. 2018 Apr;93(4):721-730. doi: 10.1111/cge.13058. Epub 2017 Sep 17. Clin Genet. 2018. PMID: 28543186 Review.
This review summarizes the clinical characteristics of SLS that have been found to contribute to the prognosis thereof, as well as recent updates from genetic and brain imaging studies. ...
This review summarizes the clinical characteristics of SLS that have been found to contribute to the prognosis thereof, as well as re …
Sjogren-Larsson syndrome.
Sood M, Trehan A, Dinakaran J, Marwaha RK. Sood M, et al. Indian J Pediatr. 2002 Feb;69(2):193-4. doi: 10.1007/BF02859387. Indian J Pediatr. 2002. PMID: 11929038
Single amino acid polymorphism in aldehyde dehydrogenase gene superfamily.
Priyadharshini Christy J, George Priya Doss C. Priyadharshini Christy J, et al. Front Biosci (Landmark Ed). 2015 Jan 1;20(2):335-76. doi: 10.2741/4313. Front Biosci (Landmark Ed). 2015. PMID: 25553455 Free article. Review.
Accumulation of large DNA variations data especially Single Amino acid Polymorphisms (SAPs) in public databases related to ALDH superfamily genes insisted us to conduct a survey on the disease associated mutations and predict their function impact on protein structure and …
Accumulation of large DNA variations data especially Single Amino acid Polymorphisms (SAPs) in public databases related to ALDH superfamily …
Ichthyosis: etiology, diagnosis, and management.
DiGiovanna JJ, Robinson-Bostom L. DiGiovanna JJ, et al. Am J Clin Dermatol. 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. Am J Clin Dermatol. 2003. PMID: 12553849 Review.
Clinical presentation, pattern of inheritance, and laboratory evaluation may establish a precise diagnosis, which can assist in prognosis and genetic counseling. Congenital autosomal recessive ichthyosis (CARI) usually presents at birth, often as a collodion baby. ...
Clinical presentation, pattern of inheritance, and laboratory evaluation may establish a precise diagnosis, which can assist in prognosis …
A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome.
Warrack S, Love T, Rizzo WB. Warrack S, et al. J Child Neurol. 2021 Oct;36(11):1011-1016. doi: 10.1177/08830738211029390. Epub 2021 Jul 28. J Child Neurol. 2021. PMID: 34315315 Free PMC article.
Except for worsening ambulation due to spastic diplegia and contractures, the neurologic disease has been considered static and a neurodegenerative course is distinctly unusual. We describe a young child with Sjogren-Larsson syndrome who exhibited an early and severely pro …
Except for worsening ambulation due to spastic diplegia and contractures, the neurologic disease has been considered static and a neurodegen …
Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene.
Udhaya Kumar S, Thirumal Kumar D, Mandal PD, Sankar S, Haldar R, Kamaraj B, Walter CEJ, Siva R, George Priya Doss C, Zayed H. Udhaya Kumar S, et al. Adv Protein Chem Struct Biol. 2020;120:349-377. doi: 10.1016/bs.apcsb.2019.11.004. Epub 2020 Feb 4. Adv Protein Chem Struct Biol. 2020. PMID: 32085885 Review.
These mutations were examined with various in silico stability tools, which predicted that the mutations p.S308N and p.R423H that are located at the protein-protein interaction domains are the most destabilizing. ...
These mutations were examined with various in silico stability tools, which predicted that the mutations p.S308N and p.R423H that are …
Pulmonary arterial hypertension related to connective tissue disease: a review.
Ahmed S, Palevsky HI. Ahmed S, et al. Rheum Dis Clin North Am. 2014 Feb;40(1):103-24. doi: 10.1016/j.rdc.2013.10.001. Rheum Dis Clin North Am. 2014. PMID: 24268012 Review.
PAH associated with connective tissue diseases is associated with significant functional impairment and morbidity, and carries with it a poor prognosis. The mortality is as high as 10% to 15% in the first year after diagnosis; making it a devastating disease. ...
PAH associated with connective tissue diseases is associated with significant functional impairment and morbidity, and carries with it a poo …
Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patients.
Rajeshwari M, Karthi S, Singh R, Efthymiou S, Gowda VK, Varalakshmi P, Srinivasan VM, Houlden H, Keller MA, Rizzo WB, Ashokkumar B. Rajeshwari M, et al. Hum Mutat. 2021 Aug;42(8):1015-1029. doi: 10.1002/humu.24236. Epub 2021 Jun 15. Hum Mutat. 2021. PMID: 34082469
(Pro442Leu); Case-5 and -6 NM_000382.2:c.1349G>A, NP_000373.1:p.(Trp450Ter). The mutations identified were predicted to be pathogenic and disrupt the functional domains of the FALDH. p....
(Pro442Leu); Case-5 and -6 NM_000382.2:c.1349G>A, NP_000373.1:p.(Trp450Ter). The mutations identified were predicted to be pathoge …
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.
Willemsen MA, IJlst L, Steijlen PM, Rotteveel JJ, de Jong JG, van Domburg PH, Mayatepek E, Gabreëls FJ, Wanders RJ. Willemsen MA, et al. Brain. 2001 Jul;124(Pt 7):1426-37. doi: 10.1093/brain/124.7.1426. Brain. 2001. PMID: 11408337 Review.
The degree of white matter abnormality in the MRIs and the height of the lipid peak in (1)H-MR spectra do not correlate with the severity of the neurological signs. The clinical presentation and the clinical course is strikingly similar in these patients. Patient 18 shows …
The degree of white matter abnormality in the MRIs and the height of the lipid peak in (1)H-MR spectra do not correlate with the severity of …
31 results