189 related articles for article (PubMed ID: 35261200)
21. Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan.
Stattin EL; Lindblom K; Struglics A; Önnerfjord P; Goldblatt J; Dixit A; Sarkar A; Randell T; Suri M; Raggio C; Davis J; Carter E; Aspberg A
Sci Rep; 2022 Mar; 12(1):5215. PubMed ID: 35338222
[TBL] [Abstract][Full Text] [Related]
22. Human 3'-phosphoadenosine 5'-phosphosulfate (PAPS) synthase: biochemistry, molecular biology and genetic deficiency.
Venkatachalam KV
IUBMB Life; 2003 Jan; 55(1):1-11. PubMed ID: 12716056
[TBL] [Abstract][Full Text] [Related]
23. Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review.
Tang W; Wu KM; Zhou Q; Tang YF; Fu JF; Dong GP; Zou CC
Mol Genet Genomic Med; 2024 Apr; 12(4):e2439. PubMed ID: 38613222
[TBL] [Abstract][Full Text] [Related]
24. A Missense Mutation (c.1037 G > C, p. R346P) in
Mustafa S; Hussain MF; Latif M; Ijaz M; Asif M; Hassan M; Faisal M; Iqbal F
Genes (Basel); 2022 Nov; 13(11):. PubMed ID: 36421772
[TBL] [Abstract][Full Text] [Related]
25. Evaluation of Growth Hormone Therapy in Seven Chinese Children With Familial Short Stature Caused by Novel
Sun J; Jiang L; Liu G; Ma C; Zheng J; Niu L
Front Pediatr; 2022; 10():819074. PubMed ID: 35330881
[TBL] [Abstract][Full Text] [Related]
26. [Clinical phenotype and genetic analysis of a child featuring short stature and multiple skeletal dysplasia].
Lyu Y; Qi F; Fei Z; Gao H; Gu C
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Feb; 41(2):244-249. PubMed ID: 38311568
[TBL] [Abstract][Full Text] [Related]
27. A heterozygous point mutation of the ANKRD11 (c.2579C>T) in a Chinese patient with idiopathic short stature.
Kang Y; He D; Li Y; Zhang Y; Shao Q; Zhang M; Ban B
Mol Genet Genomic Med; 2019 Dec; 7(12):e988. PubMed ID: 31566922
[TBL] [Abstract][Full Text] [Related]
28. Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.
Quintos JB; Guo MH; Dauber A
J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):927-32. PubMed ID: 25741789
[TBL] [Abstract][Full Text] [Related]
29. Degenerative knee joint disease in mice lacking 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (Papss2) activity: a putative model of human PAPSS2 deficiency-associated arthrosis.
Ford-Hutchinson AF; Ali Z; Seerattan RA; Cooper DM; Hallgrímsson B; Salo PT; Jirik FR
Osteoarthritis Cartilage; 2005 May; 13(5):418-25. PubMed ID: 15882565
[TBL] [Abstract][Full Text] [Related]
30. Case report: A novel heterozygous frameshift mutation of
Huang H; Jin J; Xiang R; Wang X
Front Genet; 2023; 14():1101695. PubMed ID: 37025453
[TBL] [Abstract][Full Text] [Related]
31. Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.
Wang Y; Wu X; Du L; Zheng J; Deng S; Bi X; Chen Q; Xie H; Férec C; Cooper DN; Luo Y; Fang Q; Chen JM
Hum Genomics; 2018 Jan; 12(1):3. PubMed ID: 29370840
[TBL] [Abstract][Full Text] [Related]
32. High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature.
Stavber L; Hovnik T; Kotnik P; Lovrečić L; Kovač J; Tesovnik T; Bertok S; Dovč K; Debeljak M; Battelino T; Avbelj Stefanija M
Eur J Endocrinol; 2020 Mar; 182(3):243-253. PubMed ID: 31841439
[TBL] [Abstract][Full Text] [Related]
33. Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
Iida A; Simsek-Kiper PÖ; Mizumoto S; Hoshino T; Elcioglu N; Horemuzova E; Geiberger S; Yesil G; Kayserili H; Utine GE; Boduroglu K; Watanabe S; Ohashi H; Alanay Y; Sugahara K; Nishimura G; Ikegawa S
Hum Mutat; 2013 Oct; 34(10):1381-6. PubMed ID: 23824674
[TBL] [Abstract][Full Text] [Related]
34. A Novel Heterozygous
Kim SJ; Yoon JS; Hwang IT
J Clin Res Pediatr Endocrinol; 2022 Dec; 14(4):481-484. PubMed ID: 34210114
[No Abstract] [Full Text] [Related]
35. Identification of six novel variants from nine Chinese families with hypophosphatemic rickets.
Cao Y; You Y; Wang Q; Ren X; Li S; Li L; Xia W; Guan X; Yang T; Ikegawa S; Wang Z; Zhao X
BMC Med Genomics; 2022 Jul; 15(1):161. PubMed ID: 35842615
[TBL] [Abstract][Full Text] [Related]
36. Expression profile of Papss2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2) during cartilage formation and skeletal development in the mouse embryo.
Stelzer C; Brimmer A; Hermanns P; Zabel B; Dietz UH
Dev Dyn; 2007 May; 236(5):1313-8. PubMed ID: 17436279
[TBL] [Abstract][Full Text] [Related]
37. Gene Expression Differences Between Offspring of Long-Lived Individuals and Controls in Candidate Longevity Regions: Evidence for PAPSS2 as a Longevity Gene.
Yerges-Armstrong LM; Chai S; O'Connell JR; Curran JE; Blangero J; Mitchell BD; Shuldiner AR; Damcott CM
J Gerontol A Biol Sci Med Sci; 2016 Oct; 71(10):1295-9. PubMed ID: 26896383
[TBL] [Abstract][Full Text] [Related]
38. The Spectrum of
Wu S; Wang C; Cao Q; Zhu Z; Liu Q; Gu X; Zheng B; Zhou W; Jia Z; Gu W; Li X
Front Genet; 2022; 13():891040. PubMed ID: 35620465
[No Abstract] [Full Text] [Related]
39. A child with a novel ACAN missense variant mimicking a septic arthritis.
Florio A; Papa R; Caorsi R; Consolaro A; Gastaldi R; Gattorno M; Picco P
Ital J Pediatr; 2019 Nov; 45(1):148. PubMed ID: 31747937
[TBL] [Abstract][Full Text] [Related]
40. Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) pharmacogenetics: gene resequencing, genetic polymorphisms and functional characterization of variant allozymes.
Xu ZH; Freimuth RR; Eckloff B; Wieben E; Weinshilboum RM
Pharmacogenetics; 2002 Jan; 12(1):11-21. PubMed ID: 11773860
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]