| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Isabelle Roux, Cristina Fenollar-Ferrer, Hyun Jae Lee, Parna Chattaraj, Ivan A Lopez, Kyungreem Han, Keiji Honda, Carmen C Brewer, John A Butman, Robert J Morell, Donna M Martin, Andrew J Griffit. CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct. Human genetics. 2023-09-05. PMID:37668839. |
these results suggest that some chd7 variants can cause nonsyndromic hearing loss and eva. |
2023-09-05 |
2023-09-07 |
mouse |
| Isabelle Roux, Cristina Fenollar-Ferrer, Hyun Jae Lee, Parna Chattaraj, Ivan A Lopez, Kyungreem Han, Keiji Honda, Carmen C Brewer, John A Butman, Robert J Morell, Donna M Martin, Andrew J Griffit. CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct. Human genetics. 2023-09-05. PMID:37668839. |
chd7 variants associated with hearing loss and enlargement of the vestibular aqueduct. |
2023-09-05 |
2023-09-07 |
mouse |
| Mohi Ahmed, Ruth Moon, Ravindra Singh Prajapati, Elysia James, M Albert Basson, Andrea Strei. The chromatin remodelling factor Chd7 protects auditory neurons and sensory hair cells from stress-induced degeneration. Communications biology. vol 4. issue 1. 2021-12-07. PMID:34732824. |
here we show that embryonic deletion of the chromodomain helicase dna-binding protein 7 (chd7) in auditory neurons or hair cells leads to sensorineural hearing loss due to postnatal degeneration of both cell types. |
2021-12-07 |
2023-08-13 |
Not clear |
| Adebolajo Adeyemo, Rabia Faridi, Parna Chattaraj, Rizwan Yousaf, Risa Tona, Samuel Okorie, Thashi Bharadwaj, Liz M Nouel-Saied, Anushree Acharya, Isabelle Schrauwen, Robert J Morell, Suzanne M Leal, Thomas B Friedman, Andrew J Griffith, Isabelle Rou. Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. European journal of human genetics : EJHG. 2021-11-27. PMID:34837038. |
potential causative variants were identified in genes associated with nonsyndromic hearing loss (cib2, col11a1, ildr1, myo15a, tmprss3, and wfs1), nonsyndromic hearing loss or usher syndrome (cdh23, myo7a, pcdh15, and ush2a), and other syndromic forms of hearing loss (chd7, opa1, and sptlc1). |
2021-11-27 |
2023-08-13 |
Not clear |
| E B Frolova, V M Petrov, E V Vasilyev, N A Makretskaya, O V Pilipenko, A N Tyulpako. [Kalmann syndrome in monozygous twins as an isolated manifestation of the SOX10 gene defect]. Problemy endokrinologii. vol 67. issue 5. 2021-11-12. PMID:34766489. |
for example, the combination of kalmann syndrome with sensorineural hearing loss is known as manifestation for defects of some genes encoding factors of neuronal migration; in patients with this phenotype chd7, sox10 genes defects are most frequent. |
2021-11-12 |
2023-08-13 |
Not clear |
| Hui Liu, Zhi-Zhi Li. Aggressive-like behavior and increased glycine transporters in a zebrafish model of CHARGE syndrome. Behavioural brain research. vol 378. 2021-04-29. PMID:31610215. |
coloboma, heart defects, choanal atresia, restricted growth and development, genital hypoplasia, ear abnormalities and/or hearing loss (charge) syndrome is a congenital disorder that is mainly caused by mutations within chromodomain helicase dna-binding protein 7 (chd7). |
2021-04-29 |
2023-08-13 |
zebrafish |
| Memoona Ramzan, Rasheeda Bashir, Midhat Salman, Ghulam Mujtaba, Nara Sobreira, P Dane Witmer, Sadaf Na. Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan. Scientific reports. vol 10. issue 1. 2020-12-10. PMID:32681043. |
two individuals were heterozygous for variants in myo7a and chd7, respectively, consistent with de novo variants or dominant inheritance with incomplete penetrance as the reason for their hearing loss. |
2020-12-10 |
2023-08-13 |
human |
| Maria-Christina Antoniou, Th\\xc3\\xa9r\\xc3\\xa8se Bouthors, Cheng Xu, Franziska Phan-Hug, Eglantine Elowe-Gruau, Sophie Stoppa-Vaucher, Almer van der Sloot, James Acierno, Daniele Cassatella, Celine Richard, Andrew Dwyer, Nelly Pitteloud, Michael Hauschil. A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay. Annals of pediatric endocrinology & metabolism. vol 24. issue 1. 2020-09-30. PMID:30943680. |
mutations in the chd7 gene, encoding for the chromodomain helicase dna-binding protein 7, are found in approximately 60% of individuals with charge syndrome (coloboma, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities and/or hearing loss). |
2020-09-30 |
2023-08-13 |
Not clear |
| A Kemal Topalo\\xc4\\x9fl. Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism. Journal of clinical research in pediatric endocrinology. vol 9. issue Suppl 2. 2018-08-06. PMID:29280744. |
in a clinical sense, recognizing those ihh genes and associated phenotypes may improve our diagnostic capabilities by enabling us to prioritize the screening of particular gene(s) such as synkinesia (anos1), dental agenesis (fgf8/fgfr1) and hearing loss (chd7). |
2018-08-06 |
2023-08-13 |
Not clear |
| A Kemal Topaloglu, L Damla Kota. Genetics of Hypogonadotropic Hypogonadism. Endocrine development. vol 29. 2016-07-15. PMID:26680571. |
in kallmann syndrome (ks), according to the presence of certain accompanying clinical features, genetic screening for particular gene(s) may be prioritized: synkinesia (kal1), dental agenesis (fgf8/fgfr1), bony anomalies (fgf8/fgfr1), and hearing loss (chd7, sox10). |
2016-07-15 |
2023-08-13 |
Not clear |
| Johanna Tommiska, Johanna K\\xc3\\xa4ns\\xc3\\xa4koski, Peter Christiansen, Niels J\\xc3\\xb8rgensen, Jacob Gerner Lawaetz, Anders Juul, Taneli Raivi. Genetics of congenital hypogonadotropic hypogonadism in Denmark. European journal of medical genetics. vol 57. issue 7. 2015-01-27. PMID:24732674. |
chd7 was screened in two patients with hearing loss. |
2015-01-27 |
2023-08-13 |
Not clear |
| Johanna Tommiska, Johanna K\\xc3\\xa4ns\\xc3\\xa4koski, Peter Christiansen, Niels J\\xc3\\xb8rgensen, Jacob Gerner Lawaetz, Anders Juul, Taneli Raivi. Genetics of congenital hypogonadotropic hypogonadism in Denmark. European journal of medical genetics. vol 57. issue 7. 2015-01-27. PMID:24732674. |
two patients with hearing loss had chd7 mutations (c.7832_7841del (p.k2611mfsx25) and c.2443-2a>c), confirming that chh patients with charge syndrome-associated features should be screened for mutations in chd7. |
2015-01-27 |
2023-08-13 |
Not clear |
| Mun Young Chang, Byung Yoon Cho. Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans. Korean journal of audiology. vol 18. issue 2. 2014-10-03. PMID:25279224. |
the most frequent causative gene of korean sporadic severe to profound hearing loss families was slc26a4 followed by gjb2, chd7, and cdh23. |
2014-10-03 |
2023-08-13 |
Not clear |
| Yasuko Shoji, Shinobu Ida, Yuri Etani, Hiroyuki Yamada, Futoshi Kayatani, Yasuhiro Suzuki, Kenjiro Kosaki, Nobuhiko Okamot. Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. vol 23. issue 2. 2014-05-05. PMID:24790386. |
charge syndrome is a congenital disorder caused by mutation of the chromodomain helicase dna binding protein 7 (chd7) gene and is characterized by multiple anomalies including ocular coloboma, heart defects, choanal atresia, retarded growth and development, genital and/or urological abnormalities, ear anomalies, and hearing loss. |
2014-05-05 |
2023-08-13 |
human |
| Cong Tian, Heping Yu, Bin Yang, Fengchan Han, Ye Zheng, Cynthia F Bartels, Deborah Schelling, James E Arnold, Peter C Scacheri, Qing Yin Zhen. Otitis media in a new mouse model for CHARGE syndrome with a deletion in the Chd7 gene. PloS one. vol 7. issue 4. 2012-09-10. PMID:22539951. |
in this study, we report a mouse model with a spontaneous deletion mutation in the chd7 gene and with chronic otitis media of early onset age accompanied by hearing loss. |
2012-09-10 |
2023-08-12 |
mouse |
| Elizabeth A Hurd, Meredith E Adams, Wanda S Layman, Donald L Swiderski, Lisa A Beyer, Karin E Halsey, Jennifer M Benson, Tzy-Wen Gong, David F Dolan, Yehoash Raphael, Donna M Marti. Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome. Hearing research. vol 282. issue 1-2. 2012-04-02. PMID:21875659. |
heterozygous mutations in the gene encoding chromodomain-dna-binding-protein 7 (chd7) cause charge syndrome, a multiple anomaly condition which includes vestibular dysfunction and hearing loss. |
2012-04-02 |
2023-08-12 |
mouse |
| Jorieke E H Bergman, Gianni Bocca, Lies H Hoefsloot, Linda C Meiners, Conny M A van Ravenswaaij-Art. Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome. The Journal of pediatrics. vol 158. issue 3. 2011-04-05. PMID:20884005. |
to test the hypothesis that a smell test could predict the occurrence of hypogonadotropic hypogonadism (hh) in patients with charge syndrome, which is a variable combination of ocular coloboma, heart defects, choanal atresia, retardation of growth/development, genital hypoplasia, and ear anomalies or hearing loss caused by mutations in the chd7 (chromodomain helicase dna binding protein 7) gene. |
2011-04-05 |
2023-08-12 |
Not clear |