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2022 1
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Page 1
Organ Abnormalities Caused by Turner Syndrome.
Yoon SH, Kim GY, Choi GT, Do JT. Yoon SH, et al. Cells. 2023 May 11;12(10):1365. doi: 10.3390/cells12101365. Cells. 2023. PMID: 37408200 Free PMC article. Review.
Aortic abnormalities, heart defects, obesity, hypertension, and liver abnormalities, such as steatosis, steatohepatitis, biliary involvement, liver cirrhosis, and nodular regenerative hyperplasia, are commonly observed in patients with TS. The SHOX gene plays a crucial rol …
Aortic abnormalities, heart defects, obesity, hypertension, and liver abnormalities, such as steatosis, steatohepatitis, biliary involvement …
SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries.
Srivastava P, Tyagi A, Bamba C, Kumari A, Kaur H, Seth S, Kaur A, Panigrahi I, Dayal D, Pramanik S, Mandal K. Srivastava P, et al. J Clin Res Pediatr Endocrinol. 2024 Mar 11;16(1):41-49. doi: 10.4274/jcrpe.galenos.2023.2023-3-13. Epub 2023 Sep 26. J Clin Res Pediatr Endocrinol. 2024. PMID: 37750395 Free PMC article. Review.
OBJECTIVE: Short stature homeobox (SHOX) haploinsufficiency underlies idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis. The worldwide prevalence of SHOX variations in ISS varies from 2.5% to 15.0%. The aim of this study was to ass …
OBJECTIVE: Short stature homeobox (SHOX) haploinsufficiency underlies idiopathic short stature (ISS) and Leri-We …
Updated penetrance estimates for recurrent copy number variants - an improved definition and formula.
Goh S, Dudding-Byth T, Pinese M, Kirk EP. Goh S, et al. Eur J Hum Genet. 2026 Jan;34(1):119-127. doi: 10.1038/s41431-025-01948-0. Epub 2025 Oct 15. Eur J Hum Genet. 2026. PMID: 41094176 Free PMC article.
These include 1q21.1 proximal duplications [RBM8A], 2q11.2 deletions [TMEM127], 2q13 proximal deletions and duplications [NPHP1], 6q16 duplications [SIM1], 13q12 deletions [CRYL1], 15q11.2 duplications [NIPA1, NIPA2], 15q13.3 duplications [CHRNA7], 16p12.2 duplications [CDR2], 16 …
These include 1q21.1 proximal duplications [RBM8A], 2q11.2 deletions [TMEM127], 2q13 proximal deletions and duplications [NPHP1], 6q16 dupli …
Novel heterozygous mutation in the SHOX gene leading to familial idiopathic short stature: A case report and literature review.
Liu L, Li J, Li J, Hu H, Liu J, Tang P. Liu L, et al. Medicine (Baltimore). 2023 Oct 13;102(41):e35471. doi: 10.1097/MD.0000000000035471. Medicine (Baltimore). 2023. PMID: 37832088 Free PMC article. Review.
BACKGROUND: The pathogenic mutation of short stature homeobox (SHOX) gene is one of the main genetic causes of short stature in children, with an incidence rate of 1/1000~1/2000 and the main clinical manifestations are short stature and (or) limb skele …
BACKGROUND: The pathogenic mutation of short stature homeobox (SHOX) gene is one of the main genetic causes of s …
Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study.
Jiang M, Zhang B, Wang J, Qiao W, Mao X, Yu B. Jiang M, et al. Acta Obstet Gynecol Scand. 2025 May;104(5):860-874. doi: 10.1111/aogs.15095. Epub 2025 Mar 4. Acta Obstet Gynecol Scand. 2025. PMID: 40035361 Free PMC article.
The detection rate of chromosomal abnormalities by the prenatal CMA test was 15.6% (23/147). 58 cases with negative results of CMA underwent WES, and 21 genes with pathogenic/likely pathogenic variants were detected in 21 cases, including FGFR3, COL2A1, COL1A1, COL1A2, RUNX2, LMX …
The detection rate of chromosomal abnormalities by the prenatal CMA test was 15.6% (23/147). 58 cases with negative results of CMA underwent …
Genetic heterogeneity in pediatric short stature: insights from whole exome sequencing and snp- array analyses in a Turkish cohort.
Adanur Saglam K, Bekfilavioglu S, Yıldız Boyraz A, Cimbek EA, Ozden A, Turkyilmaz A, Cebi AH, Doneray H, Karaguzel G. Adanur Saglam K, et al. Eur J Pediatr. 2025 Oct 12;184(11):680. doi: 10.1007/s00431-025-06529-3. Eur J Pediatr. 2025. PMID: 41076472
In SNP array analysis, deletions of chromosome 4p16, chromosome 15q26 and SHOX gene were found in three patients from three different families. CONCLUSIONS: This study underscores the importance of comprehensive genetic evaluation in children with syndromic and skeletal fo …
In SNP array analysis, deletions of chromosome 4p16, chromosome 15q26 and SHOX gene were found in three patients from three different …
Genetic analysis, ultrasound phenotype, and pregnancy outcomes of fetuses with Xp22.33 or Yp11.32 microdeletions.
Cai M, Chen X, Li Y, Lin N, Huang H, Xu L. Cai M, et al. J Perinat Med. 2023 Oct 18;52(1):96-101. doi: 10.1515/jpm-2023-0190. Print 2024 Jan 29. J Perinat Med. 2023. PMID: 37846158 Free article.
OBJECTIVES: The phenotypes of Xp22.33 or Yp11.32 microdeletions comprising the short-stature homeobox (SHOX) gene have been extensively described in adults and children. ...CONCLUSIONS: The ultrasonic phenotype of fetuses with Xp22.33/Yp11.32 microdele …
OBJECTIVES: The phenotypes of Xp22.33 or Yp11.32 microdeletions comprising the short-stature homeobox (SHOX) gen …
Mechanisms underlying hepatocellular carcinoma progression through N6-methyladenosine modifications of long non-coding RNA.
Wang N, Min FT, Wen WB, Cui HT. Wang N, et al. World J Gastroenterol. 2025 Jun 7;31(21):103184. doi: 10.3748/wjg.v31.i21.103184. World J Gastroenterol. 2025. PMID: 40538514 Free PMC article.
Furthermore, KIF9-AS1 stabilizes and upregulates short stature homeobox 2 by promoting its deubiquitination through ubiquitin-specific peptidase 1, thereby enhancing stemness and contributing to sorafenib resistance in HCC cells. ...
Furthermore, KIF9-AS1 stabilizes and upregulates short stature homeobox 2 by promoting its deubiquitination through ubi …
N6-methyladenosine-modified long non-coding RNA KIF9-AS1 promotes stemness and sorafenib resistance in hepatocellular carcinoma by upregulating SHOX2 expression.
Yu Y, Lu XH, Mu JS, Meng JY, Sun JS, Chen HX, Yan Y, Meng K. Yu Y, et al. World J Gastroenterol. 2024 Dec 28;30(48):5174-5190. doi: 10.3748/wjg.v30.i48.5174. World J Gastroenterol. 2024. PMID: 39735272 Free PMC article.
Additionally, KIF9-AS1 increased the stability and expression of short stature homeobox 2 by promoting ubiquitin-specific peptidase 1-induced deubiquitination. ...CONCLUSION: The N6-methyladenosine-modified lncRNA KIF9-AS1 promoted stemness and sorafenib resi …
Additionally, KIF9-AS1 increased the stability and expression of short stature homeobox 2 by promoting ubiquitin-specif …
X and Y gene dosage effects are primary contributors to human sexual dimorphism: The case of height.
Berry ASF, Finucane BM, Myers SM, Martin CL, Ledbetter DH, Willard HF, Oetjens MT. Berry ASF, et al. Proc Natl Acad Sci U S A. 2025 Jun 3;122(22):e2503039122. doi: 10.1073/pnas.2503039122. Epub 2025 May 19. Proc Natl Acad Sci U S A. 2025. PMID: 40388606 Free PMC article.
SHOX expression is reduced on the inactive X chromosome (Xi), compared to the active X in females. ...This finding is consistent with the hypothesis that reduced SHOX expression in females results in a net difference in height between the sexes....
SHOX expression is reduced on the inactive X chromosome (Xi), compared to the active X in females. ...This finding is consistent with …
40 results