| Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes. | Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes.
Hattori A, Seki A, Inaba N, Nakabayashi K, Takeda K, Tatsusmi K, Naiki Y, Nakamura A, Ishiwata K, Matsumoto K, Nasu M, Okamura K, Michigami T, Katoh-Fukui Y, Umezawa A, Ogata T, Kagami M, Fukami M., Free PMC Article | 04/16/2024 |
| SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries. | 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., Free PMC Article | 03/12/2024 |
| Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability. | Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability.
Dantas NCB, Funari MFA, Lerário AM, Andrade NLM, Rezende RC, Cellin LP, Alves C, Crisostomo LG, Arnhold IJP, Mendonca B, Scalco RC, Jorge AAL. | 09/22/2023 |
| Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant. | Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant.
Vodopiutz J, Steurer LM, Haufler F, Laccone F, Garczarczyk-Asim D, Hilkenmeier M, Steinbauer P, Janecke AR., Free PMC Article | 05/5/2023 |
| Genetic Analysis and Sonography Characteristics in Fetus with SHOX Haploinsufficiency. | Genetic Analysis and Sonography Characteristics in Fetus with SHOX Haploinsufficiency.
Li L, Fu F, Li R, Jing X, Yu Q, Zhou H, Wang Y, Yang X, Pan M, Han J, Zhen L, Li D, Liao C., Free PMC Article | 02/11/2023 |
| Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study. | Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study.
Dantas NCB, Funari MFA, Vasques GA, Andrade NLM, Rezende RC, Brito V, Scalco RC, Arnhold IJP, Mendonca BB, Jorge AAL. | 08/13/2022 |
| Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Leri-Weill dyschondrosteosis. | Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis.
Fanelli A, Vannelli S, Babu D, Mellone S, Cucci A, Monzani A, Al Essa W, Secco A, Follenzi A, Bellone S, Prodam F, Giordano M., Free PMC Article | 05/14/2022 |
| Evidence of intrauterine growth restriction and growth hormone deficiency in 49,XXXXY syndrome. | Evidence of intrauterine growth restriction and growth hormone deficiency in 49,XXXXY syndrome.
Counts DR, Yu C, Lasutschinkow PC, Sadeghin T, Gropman A, Samango-Sprouse CA. | 03/5/2022 |
| Clinical and Genetic Characteristics of 23 Korean Patients with Haploinsufficiency of the Short-stature Homeobox-containing Gene. | Clinical and Genetic Characteristics of 23 Korean Patients with Haploinsufficiency of the Short-stature Homeobox-containing Gene.
Lee JS, Kim HY, Lee YA, Lee SY, Cho TJ, Ko JM. | 01/15/2022 |
| Human Spermatogenesis Tolerates Massive Size Reduction of the Pseudoautosomal Region. | Human Spermatogenesis Tolerates Massive Size Reduction of the Pseudoautosomal Region.
Fukami M, Fujisawa Y, Ono H, Jinno T, Ogata T., Free PMC Article | 09/11/2021 |
| Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature | Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature.
Gürsoy S, Hazan F, Aykut A, Nalbantoğlu Ö, Korkmaz HA, Demir K, Özkan B, Çoğulu Ö., Free PMC Article | 08/28/2021 |
| Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency. | Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency.
Babu D, Vannelli S, Fanelli A, Mellone S, Baffico AM, Corrado L, Essa WA, Grandone A, Bellone S, Monzani A, Vinci G, De Sanctis L, Stuppia L, Prodam F, Giordano M., Free PMC Article | 08/21/2021 |
| Rare and de novo duplications containing SHOX in clubfoot. | Rare and de novo duplications containing SHOX in clubfoot.
Sadler B, Haller G, Antunes L, Nikolov M, Amarillo I, Coe B, Dobbs MB, Gurnett CA., Free PMC Article | 07/10/2021 |
| Gene Copy Number Quantification of SHOX, VAMP7, and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates. | Gene Copy Number Quantification of SHOX, VAMP7, and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates.
Ibarra-Ramírez M, Lugo-Trampe JJ, Campos-Acevedo LD, Zamudio-Osuna M, Torres-Muñoz I, Gómez-Puente V, García-Castañeda G, Arredondo-Vázquez P, Rodríguez-Sánchez IP, Schaeffer SE, Velasco-Sepúlveda BH, Villarreal-Pérez JZ, Martínez-de-Villarreal LE. | 03/6/2021 |
| SHOX CNE9/10 Knockout in U2OS Osteosarcoma Cells and Its Effects on Cell Growth and Apoptosis. | SHOX CNE9/10 Knockout in U2OS Osteosarcoma Cells and Its Effects on Cell Growth and Apoptosis.
Xu XJ, Xin SJ, Mao HY, Zhang HJ, Chen LN, Li L, Bai HL, Huang HH, Shu M., Free PMC Article | 11/28/2020 |
| Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature. | Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature.
Kumar A, Jain V, Chowdhury MR, Kumar M, Kaur P, Kabra M. | 10/31/2020 |
| The results indicate that far-downstream CNVs constitute rare genetic causes of SHOX haploinsufficiency. These CNVs possibly impair SHOX expression through copy-number changes of a human-specific cis-regulatory haplotype block | SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis.
Ogushi K, Muroya K, Shima H, Jinno T, Miyado M, Fukami M. | 08/12/2020 |
| Novel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects. | Novel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects.
Joustra SD, Kamp GA, Stalman SE, Donze SH, Losekoot M, Kant SG, de Bruin C, Oostdijk W, Wit JM. | 07/11/2020 |
| results indicate that the DNA methylation status of SHOX-flanking CpG islands can be affected by gross X-chromosomal abnormalities, but not by submicroscopic CNVs in PAR1. Such CNVs likely disturb SHOX expression through DNA methylation-independent mechanisms in patients with idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD). | DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations.
Ogushi K, Hattori A, Suzuki E, Shima H, Izawa M, Yagasaki H, Horikawa R, Uetake K, Umezawa A, Ishii T, Muroya K, Namba N, Tanaka T, Hirano Y, Yamamoto H, Soneda S, Matsubara K, Kagami M, Miyado M, Fukami M. | 09/21/2019 |
| analysis of prevalence of haploinsufficiency of short stature homeobox containing gene (SHOX) deficiency (SHOXD) in a population of short-statured children | Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity.
Genoni G, Monzani A, Castagno M, Ricotti R, Rapa A, Petri A, Babu D, Giordano M, Prodam F, Bona G, Bellone S. | 02/9/2019 |
| Included in the region distal to Xq28 is the gene MECP2 and this patient presents with features of MECP2 duplication syndrome. We find that this patient has skeletal features not typical with the loss of SHOX that are likely explained by the rearrangement of the X chromosome | Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X.
Deshwar AR, Dupuis L, Bergmann C, Stavropoulos J, Mendoza-Londono R. | 01/12/2019 |
| A molecular analysis of the SHOX gene revealed five patients with intragenic deletions, one with a deletion in the regulatory region, and one with a missense mutation at exon 5. The phenotype scoring system is useful to select children with SHOX deficiency in Taiwan. | SHOX deficiency in short Taiwanese children: A single-center experience.
Tung YC, Lee NC, Hwu WL, Liu SY, Lee CT, Chien YH, Tsai WY. | 12/1/2018 |
| SHOX deficiency is associated with growth disorders. | Growth response to growth hormone treatment in patients with SHOX deficiency can be predicted by the Cologne prediction model.
Hoyer-Kuhn H, Franklin J, Jones C, Blum WF, Schoenau E. | 08/18/2018 |
| extra SHOX copy found in three of 81 girls with tall stature | Short stature homeobox-containing gene duplications in 3.7% of girls with tall stature and normal karyotypes.
Upners EN, Jensen RB, Rajpert-De Meyts E, Dunø M, Aksglaede L, Juul A. | 05/19/2018 |
| SHOX mutations: etiopathogenesis of short stature and limb development. | A Track Record on SHOX: From Basic Research to Complex Models and Therapy.
Marchini A, Ogata T, Rappold GA., Free PMC Article | 12/9/2017 |