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Page 1
Corticosteroids for the treatment of Duchenne muscular dystrophy.
Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY. Matthews E, et al. Cochrane Database Syst Rev. 2016 May 5;2016(5):CD003725. doi: 10.1002/14651858.CD003725.pub4. Cochrane Database Syst Rev. 2016. PMID: 27149418 Free PMC article. Review.
BACKGROUND: Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy of childhood. Untreated, this incurable disease, which has an X-linked recessive inheritance, is characterised by muscle wasting and loss of walking ability, leading to …
BACKGROUND: Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy of childhood. Untreated, this incurable disease, which h …
Of men and mice: Human X-linked retinoschisis and fidelity in mouse modeling.
Vijayasarathy C, Sardar Pasha SPB, Sieving PA. Vijayasarathy C, et al. Prog Retin Eye Res. 2022 Mar;87:100999. doi: 10.1016/j.preteyeres.2021.100999. Epub 2021 Aug 11. Prog Retin Eye Res. 2022. PMID: 34390869 Review.
X-linked Retinoschisis (XLRS) is an early-onset transretinal dystrophy, often with a prominent macular component, that affects males and generally spares heterozygous females because of X-linked recessive inheritance. It results from loss-of-function R …
X-linked Retinoschisis (XLRS) is an early-onset transretinal dystrophy, often with a prominent macular component, that affects males and gen …
Gene therapy for choroideremia using an adeno-associated viral (AAV) vector.
Barnard AR, Groppe M, MacLaren RE. Barnard AR, et al. Cold Spring Harb Perspect Med. 2014 Oct 30;5(3):a017293. doi: 10.1101/cshperspect.a017293. Cold Spring Harb Perspect Med. 2014. PMID: 25359548 Free PMC article. Review.
The appearance of the fundus in sufferers is recognizable by the characteristic pale color caused by the loss of the outer retina, retinal-pigmented epithelium, and choroidal vessels, leading to exposure of the underlying sclera. Choroideremia shows X-linked rece …
The appearance of the fundus in sufferers is recognizable by the characteristic pale color caused by the loss of the outer retina, retinal-p …
X-linked juvenile retinoschisis in females and response to carbonic anhydrase inhibitors: case report and review of the literature.
Ali S, Seth R. Ali S, et al. Semin Ophthalmol. 2013 Jan;28(1):50-4. doi: 10.3109/08820538.2012.667496. Semin Ophthalmol. 2013. PMID: 23163265 Review.
X-linked retinoschisis is a very rare disease in women due to its X-linked recessive inheritance and the foveal cysts associated with it can respond to carbonic anhydrase inhibitors....
X-linked retinoschisis is a very rare disease in women due to its X-linked recessive inheritance and the foveal …
Clinical manifestations and treatment of Menkes disease and its variants.
Kodama H, Murata Y, Kobayashi M. Kodama H, et al. Pediatr Int. 1999 Aug;41(4):423-9. doi: 10.1046/j.1442-200x.1999.01095.x. Pediatr Int. 1999. PMID: 10453199 Review.
The clinical manifestations of classical Menkes disease, mild Menkes disease and occipital horn syndrome are reviewed. Menkes disease is a neurodegenerative disease with X-linked recessive inheritance. Orally administered copper accumulates in t …
The clinical manifestations of classical Menkes disease, mild Menkes disease and occipital horn syndrome are reviewed. Menkes disease …
A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1.
Gao X, Liu T, Cheng X, Dai A, Liu W, Li R, Zhang M. Gao X, et al. Mol Med Rep. 2020 Jan;21(1):240-248. doi: 10.3892/mmr.2019.10813. Epub 2019 Nov 12. Mol Med Rep. 2020. PMID: 31746431 Free PMC article. Clinical Trial.
Ocular albinism type 1 (OA1) is a genetic disorder characterized by reduced eye pigmentation and nystagmus, which is often accompanied by decreased visual acuity, strabismus and other symptoms, whereas skin and hair color remain normal. The present study aimed to assess the cl …
Ocular albinism type 1 (OA1) is a genetic disorder characterized by reduced eye pigmentation and nystagmus, which is often accompanied by de …
A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease.
Bustamante J, Picard C, Fieschi C, Filipe-Santos O, Feinberg J, Perronne C, Chapgier A, de Beaucoudrey L, Vogt G, Sanlaville D, Lemainque A, Emile JF, Abel L, Casanova JL. Bustamante J, et al. J Med Genet. 2007 Feb;44(2):e65. doi: 10.1136/jmg.2006.043406. J Med Genet. 2007. PMID: 17293536 Free PMC article.
METHODS: A large kindred was studied, including four male maternal relatives with recurrent mycobacterial disease, suggesting X-linked recessive inheritance. Three patients had recurrent disease caused by the bacille Calmette-Guerin vaccine, and the fo …
METHODS: A large kindred was studied, including four male maternal relatives with recurrent mycobacterial disease, suggesting X-li …
Effect of allogeneic hematopoietic stem cell transplantation for chronic granulomatous disease in children: A multicentre, retrospective cohort study in China.
Si Y, Dou Y, Zhai X, Zhou C, Lu W, Meng Y, Qian X, Chen J, Wang P, Luo C, Yu J, Tang X. Si Y, et al. Clin Immunol. 2024 Mar;260:109919. doi: 10.1016/j.clim.2024.109919. Epub 2024 Feb 2. Clin Immunol. 2024. PMID: 38309448
The median age at the time of transplantation was 6.1 (0-16.4) years. Among them, 154 patients had X-linked recessive inheritance caused by CYBB gene mutations, 12 patients were autosomal recessive, 1 patient had DNAH11 and HYDIN gene mutations, and 4 …
The median age at the time of transplantation was 6.1 (0-16.4) years. Among them, 154 patients had X-linked recessive …
A Novel CD40L Mutation Associated with X-Linked Hyper IgM Syndrome in a Chinese Family.
Li L, Ji J, Han M, Xu Y, Zhang X, Liu W, Liu S. Li L, et al. Immunol Invest. 2020 Apr;49(3):307-316. doi: 10.1080/08820139.2019.1638397. Epub 2019 Aug 12. Immunol Invest. 2020. PMID: 31401902
As his mother in the family was carrier with this heterozygous mutation, the hemizygous mutation in this patient came from his mother indicating that genetic mode of XHIGM is X-linked recessive inheritance.Conclusion: This study broadens our knowledge …
As his mother in the family was carrier with this heterozygous mutation, the hemizygous mutation in this patient came from his mother indica …
Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome.
Owen CJ, Jennings CE, Imrie H, Lachaux A, Bridges NA, Cheetham TD, Pearce SH. Owen CJ, et al. J Clin Endocrinol Metab. 2003 Dec;88(12):6034-9. doi: 10.1210/jc.2003-031080. J Clin Endocrinol Metab. 2003. PMID: 14671208
The immunodysregulation, polyendocrinopathy, enteropathy syndrome (IPEX), is a rare disorder of immune regulation resulting in multiple autoimmune disorders, which demonstrates X-linked recessive inheritance. The disease gene, FOXP3, was identified in …
The immunodysregulation, polyendocrinopathy, enteropathy syndrome (IPEX), is a rare disorder of immune regulation resulting in multiple auto …
16 results