PubMed for id: 1174098844

Year	Number of Results
1976	1
1992	3
1993	1
2000	1
2021	1
2022	2
2023	3
2024	0

1

A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing.

Ullah M, Rehman AU, Folcher M, Ullah A, Usman F, Rashid A, Khan B, Quinodoz M, Ansar M, Rivolta C. Ullah M, et al. Ophthalmic Res. 2023;66(1):878-884. doi: 10.1159/000530800. Epub 2023 Apr 24. Ophthalmic Res. 2023. PMID: 37094557 Free article.

2

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.

Aziz N, Ullah M, Rashid A, Hussain Z, Shah K, Awan A, Khan M, Ullah I, Rehman AU. Aziz N, et al. BMC Ophthalmol. 2023 Mar 23;23(1):116. doi: 10.1186/s12886-023-02845-0. BMC Ophthalmol. 2023. PMID: 36959549 Free PMC article.

3

Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration.

Sangermano R, Biswas P, Sullivan LS, Place EM, Borooah S, Straubhaar J, Pierce EA, Daiger SP, Bujakowska KM, Ayaggari R. Sangermano R, et al. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006247. doi: 10.1101/mcs.a006247. Print 2022 Dec. Cold Spring Harb Mol Case Stud. 2022. PMID: 36376065 Free PMC article.

4

Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families.

Li Y, Li R, Dai H, Li G. Li Y, et al. BMC Ophthalmol. 2022 Jan 15;22(1):27. doi: 10.1186/s12886-021-02242-5. BMC Ophthalmol. 2022. PMID: 35033039 Free PMC article.

5

PDE6B Mutation-associated Inherited Retinal Disease.

Marconi S, Stout JT. Marconi S, et al. Int Ophthalmol Clin. 2021 Oct 1;61(4):133-142. doi: 10.1097/IIO.0000000000000367. Int Ophthalmol Clin. 2021. PMID: 34584050 No abstract available.

6

Nonsyndromic Retinitis Pigmentosa Overview.

Fahim AT, Daiger SP, Weleber RG. Fahim AT, et al. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301590 Free Books & Documents. Review.

7

The human beta-subunit of rod photoreceptor cGMP phosphodiesterase: complete retinal cDNA sequence and evidence for expression in brain.

Collins C, Hutchinson G, Kowbel D, Riess O, Weber B, Hayden MR. Collins C, et al. Genomics. 1992 Jul;13(3):698-704. doi: 10.1016/0888-7543(92)90144-h. Genomics. 1992. PMID: 1322354

8

Chromosome mapping of the rod photoreceptor cGMP phosphodiesterase beta-subunit gene in mouse and human: tight linkage to the Huntington disease region (4p16.3).

Altherr MR, Wasmuth JJ, Seldin MF, Nadeau JH, Baehr W, Pittler SJ. Altherr MR, et al. Genomics. 1992 Apr;12(4):750-4. doi: 10.1016/0888-7543(92)90305-c. Genomics. 1992. PMID: 1315306

9

Assignment of the beta-subunit of rod photoreceptor cGMP phosphodiesterase gene PDEB (homolog of the mouse rd gene) to human chromosome 4p16.

Bateman JB, Klisak I, Kojis T, Mohandas T, Sparkes RS, Li TS, Applebury ML, Bowes C, Farber DB. Bateman JB, et al. Genomics. 1992 Mar;12(3):601-3. doi: 10.1016/0888-7543(92)90454-z. Genomics. 1992. PMID: 1313787

10

Enzymic basis for cyclic GMP accumulation in degenerative photoreceptor cells of mouse retina.

Farber DB, Lolley RN. Farber DB, et al. J Cyclic Nucleotide Res. 1976;2(3):139-48. J Cyclic Nucleotide Res. 1976. PMID: 6493

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