• Reference Citation Analysis
  • v
  • v
  • Find an Article
Find an Article PDF (5125798)   Today's Articles (12720)
For: Sharp A, Robinson D, Jacobs P. Age- and tissue-specific variation of X chromosome inactivation ratios in normal women. Hum Genet 2000;107:343-9. [PMID: 11129333 DOI: 10.1007/s004390000382] [Citation(s) in RCA: 267] [Impact Index Per Article: 10.7] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/23/2022]
Number Cited by Other Article(s)
1
Saito S, Suzuki S, Izumi K, Kamiyama T, Saito K, Yamamura H, Kokumai T, Furuya A, Taketazu G, Makita Y, Niida Y, Takahashi S. Clinical and Molecular Genetic Analyses of a Girl With Isolated Nephrogenic Diabetes Insipidus due to Contiguous Gene Deletion Involving AVPR2 and L1CAM. Am J Med Genet A 2025;197:e64024. [PMID: 39992048 DOI: 10.1002/ajmg.a.64024] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/25/2024] [Revised: 12/29/2024] [Accepted: 01/25/2025] [Indexed: 02/25/2025]
2
Suzuki R, Sakakibara N, Murakami S, Ichikawa Y, Kitakado H, Ueda C, Tanaka Y, Okada E, Kondo A, Aoto Y, Ishiko S, Ishimori S, Nagano C, Yamamura T, Horinouchi T, Okamoto T, Nozu K. Genotype and X-chromosome inactivation are associated with disease severity in females with X-linked Alport syndrome. Nephrol Dial Transplant 2025;40:688-695. [PMID: 39134512 DOI: 10.1093/ndt/gfae182] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/21/2024] [Indexed: 04/02/2025]  Open
3
Qin S, Luo Z, Wang J, Wang X, Chen X, Ye M, Leng X. Nephrogenic diabetes insipidus results from a novel in-frame deletion of AVPR2 gene in monozygotic-twin boys and their mother and grandmother. J Pediatr Endocrinol Metab 2025;38:162-171. [PMID: 39648407 DOI: 10.1515/jpem-2024-0301] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/01/2024] [Accepted: 11/21/2024] [Indexed: 12/10/2024]
4
Baek IC, Sim SY, Suh BK, Kim TG, Cho WK. Assessment of XCI skewing and demonstration of XCI escape region based on single-cell RNA sequencing: comparison between female Grave's disease and control. BMC Mol Cell Biol 2025;26:8. [PMID: 39891056 PMCID: PMC11786500 DOI: 10.1186/s12860-025-00533-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/04/2024] [Accepted: 01/27/2025] [Indexed: 02/03/2025]  Open
5
Vaz D, Vasconcelos S, Caniçais C, Costa B, Ramalho C, Marques J, Dória S. X-chromosome inactivation pattern and telomere length in recurrent pregnancy loss. Reprod Biol 2024;24:100933. [PMID: 39173315 DOI: 10.1016/j.repbio.2024.100933] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/23/2023] [Revised: 05/09/2024] [Accepted: 08/12/2024] [Indexed: 08/24/2024]
6
Gocuk SA, Lancaster J, Su S, Jolly JK, Edwards TL, Hickey DG, Ritchie ME, Blewitt ME, Ayton LN, Gouil Q. Measuring X-Chromosome inactivation skew for X-linked diseases with adaptive nanopore sequencing. Genome Res 2024;34:1954-1965. [PMID: 39284686 PMCID: PMC11610576 DOI: 10.1101/gr.279396.124] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/22/2024] [Accepted: 09/10/2024] [Indexed: 11/01/2024]
7
Loges NT, Marthin JK, Raidt J, Olbrich H, Höben IM, Cindric S, Bracht D, König J, Rieck C, George S, Kloth TL, Wohlgemuth K, Pennekamp P, Dworniczak B, Holgersen MG, Römel J, Schmalstieg C, Aprea I, Mortensen J, Nielsen KG, Omran H. A range of 30-62% of functioning multiciliated airway cells is sufficient to maintain ciliary airway clearance. Eur Respir J 2024;64:2301441. [PMID: 38991708 PMCID: PMC11469306 DOI: 10.1183/13993003.01441-2023] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/25/2023] [Accepted: 06/16/2024] [Indexed: 07/13/2024]
8
Cuinat S, Quélin C, Effray C, Dubourg C, Le Bouar G, Cabaret-Dufour AS, Loget P, Proisy M, Sauvestre F, Sarreau M, Martin-Berenguer S, Beneteau C, Naudion S, Michaud V, Arveiler B, Trimouille A, Macé P, Sigaudy S, Glazunova O, Torrents J, Raymond L, Saint-Frison MH, Attié-Bitach T, Lefebvre M, Capri Y, Bourgon N, Thauvin-Robinet C, Tran Mau-Them F, Bruel AL, Vitobello A, Denommé-Pichon AS, Faivre L, Brehin AC, Goldenberg A, Patrier-Sallebert S, Perani A, Dauriat B, Bourthoumieu S, Yardin C, Marquet V, Barnique M, Fiorenza-Gasq M, Marey I, Tournadre D, Doumit R, Nugues F, Barakat TS, Bustos F, Jaillard S, Launay E, Pasquier L, Odent S. Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective. J Med Genet 2024;61:824-832. [PMID: 38849204 PMCID: PMC11420740 DOI: 10.1136/jmg-2024-109854] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/05/2024] [Accepted: 05/19/2024] [Indexed: 06/09/2024]
9
Lombardo A, Sinibaldi L, Genovese S, Catino G, Mei V, Pompili D, Sallicandro E, Falasca R, Liambo MT, Faggiano MV, Roberti MC, Di Donato M, Vitelli A, Russo S, Giannini R, Micalizzi A, Pietrafusa N, Digilio MC, Novelli A, Fusco L, Alesi V. A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism. Int J Mol Sci 2024;25:6912. [PMID: 39000022 PMCID: PMC11241409 DOI: 10.3390/ijms25136912] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/07/2024] [Revised: 06/11/2024] [Accepted: 06/13/2024] [Indexed: 07/14/2024]  Open
10
Di H, Wang Q, Liang D, Zhang J, Gao E, Zheng C, Yu X, Liu Z. Genetic features and kidney morphological changes in women with X-linked Alport syndrome. J Med Genet 2023;60:1169-1176. [PMID: 37225412 DOI: 10.1136/jmg-2023-109221] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/15/2023] [Accepted: 05/10/2023] [Indexed: 05/26/2023]
11
Mou W, Zhao Z, Gao L, Fu L, Li J, Jiao A, Peng Y, Yu T, Guo Y, Chen L, Wang H, Liu J, Qin Q, Xu B, Liu X, He J, Gui J. An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation. J Clin Immunol 2023;43:2165-2180. [PMID: 37831401 DOI: 10.1007/s10875-023-01564-x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/15/2022] [Accepted: 08/02/2023] [Indexed: 10/14/2023]
12
de Carvalho Kimura T, de Lima-Souza RA, Scarini JF, Lavareze L, Egal ESA, Altemani A, Mariano FV. Clinicopathological profile of sclerosing polycystic adenoma/adenosis: A systematic review. Head Neck 2023;45:2449-2457. [PMID: 37403748 DOI: 10.1002/hed.27435] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/27/2023] [Revised: 05/10/2023] [Accepted: 06/09/2023] [Indexed: 07/06/2023]  Open
13
Gocuk SA, Jolly JK, Edwards TL, Ayton LN. Female carriers of X-linked inherited retinal diseases - Genetics, diagnosis, and potential therapies. Prog Retin Eye Res 2023;96:101190. [PMID: 37406879 DOI: 10.1016/j.preteyeres.2023.101190] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/09/2023] [Revised: 06/13/2023] [Accepted: 06/14/2023] [Indexed: 07/07/2023]
14
Buono MF, Benavente ED, Daniels M, Mol BM, Mekke JM, de Borst GJ, de Kleijn DPV, van der Laan SW, Pasterkamp G, Onland-Moret C, Mokry M, den Ruijter HM. X chromosome inactivation skewing is common in advanced carotid atherosclerotic lesions in females and predicts secondary peripheral artery events. Biol Sex Differ 2023;14:43. [PMID: 37408072 PMCID: PMC10324263 DOI: 10.1186/s13293-023-00527-6] [Citation(s) in RCA: 5] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/03/2023] [Accepted: 06/24/2023] [Indexed: 07/07/2023]  Open
15
Minić S, Cerovac N, Novaković I, Gazikalović S, Popadić S, Trpinac D. The Impact of the IKBKG Gene on the Appearance of the Corpus Callosum Abnormalities in Incontinentia Pigmenti. Diagnostics (Basel) 2023;13:diagnostics13071300. [PMID: 37046518 PMCID: PMC10093331 DOI: 10.3390/diagnostics13071300] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/21/2023] [Revised: 03/19/2023] [Accepted: 03/28/2023] [Indexed: 03/31/2023]  Open
16
Iannuzzi V, Bacalini MG, Franceschi C, Giuliani C. The role of genetics and epigenetics in sex differences in human survival. GENUS 2023. [DOI: 10.1186/s41118-023-00181-1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/20/2023]  Open
17
Li Q, Chen S, Dong X, Fu S, Zhang T, Zheng W, Tian Y, Huang D. The Progress of Research on Genetic Factors of Recurrent Pregnancy Loss. Genet Res (Camb) 2023;2023:9164374. [PMID: 37006462 PMCID: PMC10065863 DOI: 10.1155/2023/9164374] [Citation(s) in RCA: 12] [Impact Index Per Article: 6.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/04/2022] [Revised: 02/09/2023] [Accepted: 02/16/2023] [Indexed: 04/04/2023]  Open
18
Juchniewicz P, Kloska A, Portalska K, Jakóbkiewicz-Banecka J, Węgrzyn G, Liss J, Głodek P, Tukaj S, Piotrowska E. X-chromosome inactivation patterns depend on age and tissue but not conception method in humans. Chromosome Res 2023;31:4. [PMID: 36695960 PMCID: PMC9877087 DOI: 10.1007/s10577-023-09717-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/16/2022] [Revised: 11/27/2022] [Accepted: 12/06/2022] [Indexed: 01/26/2023]
19
Günthner R, Knipping L, Jeruschke S, Satanoskij R, Lorenz-Depiereux B, Hemmer C, Braunisch MC, Riedhammer KM, Ćomić J, Tönshoff B, Tasic V, Abazi-Emini N, Nushi-Stavileci V, Buiting K, Gjorgjievski N, Momirovska A, Patzer L, Kirschstein M, Gross O, Lungu A, Weber S, Renders L, Heemann U, Meitinger T, Büscher AK, Hoefele J. Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age. Front Med (Lausanne) 2022;9:953643. [PMID: 36341250 PMCID: PMC9630586 DOI: 10.3389/fmed.2022.953643] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/26/2022] [Accepted: 09/21/2022] [Indexed: 08/29/2023]  Open
20
Liu H, Su L, Liu H, Zheng J, Feng H, Liu Y, Yu M, Han D. Rare X-Linked Hypohidrotic Ectodermal Dysplasia in Females Associated with Ectodysplasin-A Variants and the X-Chromosome Inactivation Pattern. Diagnostics (Basel) 2022;12:diagnostics12102300. [PMID: 36291989 PMCID: PMC9600026 DOI: 10.3390/diagnostics12102300] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/05/2022] [Revised: 09/18/2022] [Accepted: 09/20/2022] [Indexed: 11/16/2022]  Open
21
Wagenhäuser L, Rickert V, Sommer C, Wanner C, Nordbeck P, Rost S, Üçeyler N. X-chromosomal inactivation patterns in women with Fabry disease. Mol Genet Genomic Med 2022;10:e2029. [PMID: 35971858 PMCID: PMC9482401 DOI: 10.1002/mgg3.2029] [Citation(s) in RCA: 11] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/30/2022] [Revised: 07/06/2022] [Accepted: 07/19/2022] [Indexed: 11/05/2022]  Open
22
A Novel Missense Mutation of Arginine Vasopressin Receptor 2 in a Chinese Family with Congenital Nephrogenic Diabetes Insipidus: X-Chromosome Inactivation in Female CNDI Patients with Heterozygote 814A>G Mutation. BIOMED RESEARCH INTERNATIONAL 2022;2022:7073158. [PMID: 35865667 PMCID: PMC9296320 DOI: 10.1155/2022/7073158] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 02/08/2022] [Revised: 04/10/2022] [Accepted: 06/02/2022] [Indexed: 11/27/2022]
23
X-Chromosome Inactivation and Related Diseases. Genet Res (Camb) 2022;2022:1391807. [PMID: 35387179 PMCID: PMC8977309 DOI: 10.1155/2022/1391807] [Citation(s) in RCA: 31] [Impact Index Per Article: 10.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/08/2021] [Revised: 02/02/2022] [Accepted: 03/17/2022] [Indexed: 12/12/2022]  Open
24
Řeboun M, Sikora J, Magner M, Wiederlechnerová H, Černá A, Poupětová H, Štorkánova G, Mušálková D, Dostálová G, Goláň L, Linhart A, Dvořáková L. Pitfalls of X-chromosome inactivation testing in females with Fabry disease. Am J Med Genet A 2022;188:1979-1989. [PMID: 35338595 DOI: 10.1002/ajmg.a.62728] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/19/2021] [Revised: 02/09/2022] [Accepted: 03/04/2022] [Indexed: 11/07/2022]
25
Catino G, Genovese S, Di Tommaso S, Orlando V, Petti MT, De Bernardi ML, Dallapiccola B, Novelli A, Ulgheri L, Piscopo C, Alesi V. Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability. Am J Med Genet A 2022;188:1836-1847. [PMID: 35238482 DOI: 10.1002/ajmg.a.62694] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/17/2021] [Revised: 02/02/2022] [Accepted: 02/05/2022] [Indexed: 12/13/2022]
26
Rodrigues B, Gonçalves A, Sousa V, Maia N, Marques I, Vale-Fernandes E, Santos R, Nogueira AJA, Jorge P. Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis. Genes (Basel) 2022;13:419. [PMID: 35327973 PMCID: PMC8951761 DOI: 10.3390/genes13030419] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/31/2022] [Revised: 02/22/2022] [Accepted: 02/23/2022] [Indexed: 11/23/2022]  Open
27
Qin S, Wang X, Wang J. Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene. Mol Cytogenet 2022;15:2. [PMID: 35164824 PMCID: PMC8842887 DOI: 10.1186/s13039-022-00580-7] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/24/2021] [Accepted: 01/28/2022] [Indexed: 11/10/2022]  Open
28
Liu L, Chen H, Sun C, Zhang J, Wang J, Du M, Li J, Di L, Shen J, Geng S, Pang Y, Luo Y, Wu C, Fu Y, Zheng Z, Wang J, Huang Y. Low-frequency somatic copy number alterations in normal human lymphocytes revealed by large-scale single-cell whole-genome profiling. Genome Res 2021;32:44-54. [PMID: 34963662 PMCID: PMC8744674 DOI: 10.1101/gr.275453.121] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/26/2021] [Accepted: 11/15/2021] [Indexed: 11/29/2022]
29
Apkon S, Kinnett K, Cripe L, Duan D, Jackson JL, Kornegay JN, Mah ML, Nelson SF, Rao V, Scavina M, Wong BL, Flanigan KM. Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 - June 27, 2019. J Neuromuscul Dis 2021;8:315-322. [PMID: 33361607 PMCID: PMC10497321 DOI: 10.3233/jnd-200555] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/15/2022]
30
Barreto VM, Kubasova N, Alves-Pereira CF, Gendrel AV. X-Chromosome Inactivation and Autosomal Random Monoallelic Expression as "Faux Amis". Front Cell Dev Biol 2021;9:740937. [PMID: 34631717 PMCID: PMC8495168 DOI: 10.3389/fcell.2021.740937] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/13/2021] [Accepted: 08/30/2021] [Indexed: 12/23/2022]  Open
31
Simonetti L, Ferreira LGA, Vidi AC, de Souza JS, Kunii IS, Melaragno MI, de Mello CB, Carvalheira G, Dias da Silva MR. Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation Pattern. Front Genet 2021;12:724625. [PMID: 34616429 PMCID: PMC8488338 DOI: 10.3389/fgene.2021.724625] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/15/2021] [Accepted: 08/24/2021] [Indexed: 11/25/2022]  Open
32
Viggiano E, Politano L. X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis. Int J Mol Sci 2021;22:ijms22147663. [PMID: 34299283 PMCID: PMC8304911 DOI: 10.3390/ijms22147663] [Citation(s) in RCA: 20] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/23/2021] [Revised: 07/13/2021] [Accepted: 07/14/2021] [Indexed: 12/27/2022]  Open
33
A statistical measure for the skewness of X chromosome inactivation for quantitative traits and its application to the MCTFR data. BMC Genom Data 2021;22:24. [PMID: 34215184 PMCID: PMC8254321 DOI: 10.1186/s12863-021-00978-z] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/18/2020] [Accepted: 06/17/2021] [Indexed: 11/24/2022]  Open
34
X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay. Clin Exp Nephrol 2021;25:1224-1230. [PMID: 34128148 DOI: 10.1007/s10157-021-02099-4] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/06/2020] [Accepted: 06/09/2021] [Indexed: 01/04/2023]
35
trans-Acting Factors and cis Elements Involved in the Human Inactive X Chromosome Organization and Compaction. Genet Res (Camb) 2021;2021:6683460. [PMID: 34035662 PMCID: PMC8121581 DOI: 10.1155/2021/6683460] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/19/2020] [Revised: 04/06/2021] [Accepted: 04/30/2021] [Indexed: 11/23/2022]  Open
36
Juchniewicz P, Piotrowska E, Kloska A, Podlacha M, Mantej J, Węgrzyn G, Tukaj S, Jakóbkiewicz-Banecka J. Dosage Compensation in Females with X-Linked Metabolic Disorders. Int J Mol Sci 2021;22:ijms22094514. [PMID: 33925963 PMCID: PMC8123450 DOI: 10.3390/ijms22094514] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/31/2021] [Revised: 04/20/2021] [Accepted: 04/22/2021] [Indexed: 01/19/2023]  Open
37
Körber L, Schneider H, Fleischer N, Maier-Wohlfart S. No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia. Orphanet J Rare Dis 2021;16:98. [PMID: 33622384 PMCID: PMC7901220 DOI: 10.1186/s13023-021-01735-2] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/30/2020] [Accepted: 02/09/2021] [Indexed: 12/25/2022]  Open
38
Mastrangelo A, Giani M, Groppali E, Castorina P, Soldà G, Robusto M, Fallerini C, Bruttini M, Renieri A, Montini G. X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases. Front Med (Lausanne) 2020;7:580376. [PMID: 33330536 PMCID: PMC7719790 DOI: 10.3389/fmed.2020.580376] [Citation(s) in RCA: 14] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/06/2020] [Accepted: 10/19/2020] [Indexed: 11/30/2022]  Open
39
Sandow R, Scott FP, Schluter PJ, Rolnik DL, Menezes M, Nisbet D, McLennan AC. Increasing maternal age is not a significant cause of false‐positive results for monosomy X in non‐invasive prenatal testing. Prenat Diagn 2020;40:1466-1473. [DOI: 10.1002/pd.5790] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/17/2019] [Revised: 03/23/2020] [Accepted: 07/12/2020] [Indexed: 01/15/2023]
40
Polat S, Karaburgu S, Unluhizarci K, Dündar M, Özkul Y, Arslan YK, Karaca Z, Kelestimur F. The role of androgen receptor CAG repeat polymorphism in androgen excess disorder and idiopathic hirsutism. J Endocrinol Invest 2020;43:1271-1281. [PMID: 32166698 DOI: 10.1007/s40618-020-01215-7] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/08/2019] [Accepted: 03/04/2020] [Indexed: 12/19/2022]
41
Zhang X, Li Y, Ma L, Zhang G, Liu M, Wang C, Zheng Y, Li R. A new sex-specific underlying mechanism for female schizophrenia: accelerated skewed X chromosome inactivation. Biol Sex Differ 2020;11:39. [PMID: 32680558 PMCID: PMC7368719 DOI: 10.1186/s13293-020-00315-6] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/15/2020] [Accepted: 07/02/2020] [Indexed: 02/07/2023]  Open
42
Fontana L, Bedeschi MF, Cagnoli GA, Costanza J, Persico N, Gangi S, Porro M, Ajmone PF, Colapietro P, Santaniello C, Crippa M, Sirchia SM, Miozzo M, Tabano S. (Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome. Mol Genet Genomic Med 2020;8:e1386. [PMID: 32627967 PMCID: PMC7507324 DOI: 10.1002/mgg3.1386] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/31/2020] [Revised: 05/26/2020] [Accepted: 06/01/2020] [Indexed: 12/19/2022]  Open
43
Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing. Mol Neurobiol 2020;57:3671-3684. [DOI: 10.1007/s12035-020-01981-8] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/20/2020] [Accepted: 06/08/2020] [Indexed: 12/14/2022]
44
Salvetti AP, Nanda A, MacLaren RE. RPGR-Related X-Linked Retinitis Pigmentosa Carriers with a Severe "Male Pattern". Ophthalmologica 2020;244:60-67. [PMID: 32434206 DOI: 10.1159/000503687] [Citation(s) in RCA: 12] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/09/2019] [Accepted: 09/25/2019] [Indexed: 11/19/2022]
45
Ayachi S, Buscarlet M, Busque L. 60 Years of clonal hematopoiesis research: From X-chromosome inactivation studies to the identification of driver mutations. Exp Hematol 2020;83:2-11. [PMID: 32001340 DOI: 10.1016/j.exphem.2020.01.008] [Citation(s) in RCA: 22] [Impact Index Per Article: 4.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/12/2019] [Revised: 01/18/2020] [Accepted: 01/22/2020] [Indexed: 12/17/2022]
46
Cho RY, Peñaherrera MS, Du Souich C, Huang L, Mwenifumbo J, Nelson TN, Elliott AM, Adam S, Eydoux P, Yang GX, Chijiwa C, Van Allen MI, Friedman JM, Robinson WP, Lehman A. Renpenning syndrome in a female. Am J Med Genet A 2019;182:498-503. [PMID: 31840929 DOI: 10.1002/ajmg.a.61451] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/13/2019] [Revised: 10/26/2019] [Accepted: 10/29/2019] [Indexed: 01/03/2023]
47
Moyer AM, Matey ET, Miller VM. Individualized medicine: Sex, hormones, genetics, and adverse drug reactions. Pharmacol Res Perspect 2019;7:e00541. [PMID: 31844524 PMCID: PMC6897337 DOI: 10.1002/prp2.541] [Citation(s) in RCA: 58] [Impact Index Per Article: 9.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/28/2019] [Accepted: 10/08/2019] [Indexed: 12/16/2022]  Open
48
Fahim AT, Sullivan LS, Bowne SJ, Jones KD, Wheaton DKH, Khan NW, Heckenlively JR, Jayasundera KT, Branham KH, Andrews CA, Othman MI, Karoukis AJ, Birch DG, Daiger SP. X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa. Ophthalmol Retina 2019;4:510-520. [PMID: 31953110 DOI: 10.1016/j.oret.2019.11.010] [Citation(s) in RCA: 40] [Impact Index Per Article: 6.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/21/2019] [Revised: 11/08/2019] [Accepted: 11/11/2019] [Indexed: 11/16/2022]
49
Androgen Receptor Polymorphism and Female Sexual Function and Desire. J Sex Med 2019;15:1537-1546. [PMID: 30415810 DOI: 10.1016/j.jsxm.2018.09.013] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/22/2018] [Revised: 09/14/2018] [Accepted: 09/18/2018] [Indexed: 11/22/2022]
50
Hagen LA, Arnegard S, Kuchenbecker JA, Gilson SJ, Neitz M, Neitz J, Baraas RC. The association between L:M cone ratio, cone opsin genes and myopia susceptibility. Vision Res 2019;162:20-28. [PMID: 31254532 PMCID: PMC7122956 DOI: 10.1016/j.visres.2019.06.006] [Citation(s) in RCA: 20] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/10/2019] [Revised: 06/12/2019] [Accepted: 06/13/2019] [Indexed: 11/16/2022]
PrevPage 1 of 6 123456Next
© 2004-2025 Baishideng Publishing Group Inc. All rights reserved. 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Excel