Of genes and disease

Generation and validation of a Leber Congenital Amaurosis, Type 12 patient-specific iPSC line (LVPEIi006-B) with a splice-site mutation in RD3 and an isogenic mutation-corrected iPSC line (LVPEIi006-B-1).

Stem cell research·2025

Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center.

Indian journal of ophthalmology·2024

BEST1 associated bestrophinopathies with angle closure and post-surgical malignant glaucoma.

Ophthalmic genetics·2024

Generation and characterization of a Stargardt's disease-specific induced pluripotent stem cell line (LVPEIi008-A) with a homozygous nonsense mutation in exon 44 of ABCA4.

Stem cell research·2024

Generation of two induced pluripotent stem cell lines (LVPEIi004-A and LVPEIi005-A) from probands with Leber Congenital Amaurosis 2 (LCA2) and harboring mutations in RPE65.

Stem cell research·2024

Generation of two induced pluripotent stem cell lines (LVPEIi007-B, LVPEIi008-B) from patients harboring homozygous mutation in ABCA4 (c.6088C>T) using non-integrative Sendai virus-based approach.

Stem cell research·2024

Reverse endothelial scraping technique for refractory deep infectious keratitis: Novel surgical technique and outcome evaluation.

Indian journal of ophthalmology·2026

Clinical outcomes after implantation of a combination of intrastromal corneal ring segments in different optical zones in advanced keratoconus.

Indian journal of ophthalmology·2026

Clinical and epidemiological profiles of vernal keratoconjunctivitis in a tertiary care setting: Association of disease pattern with recurrent attacks.

Indian journal of ophthalmology·2026

Surgical interventions in herpes simplex virus keratitis: Outcomes in a large cohort.

Indian journal of ophthalmology·2026

Altered expression of miRNAs and its implication for Pseudomonas aeruginosa keratitis.

Indian journal of ophthalmology·2026

Correlation of graft-host junction alignment and epithelial thickness with postoperative astigmatism following corneal transplantation.

Indian journal of ophthalmology·2026

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Italian journal of pediatrics·2026

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Diabetes·2026

Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome.

Frontiers in genetics·2026

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Journal of biomedical science·2026

Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome.

BMC medical genomics·2026

The first 25 years of the NICHD Structural Birth Defects Initiative.

Developmental biology·2026

Related Experiment Videos

Of genes and disease

Related Concept Videos

Generation and validation of a Leber Congenital Amaurosis, Type 12 patient-specific iPSC line (LVPEIi006-B) with a splice-site mutation in RD3 and an isogenic mutation-corrected iPSC line (LVPEIi006-B-1).

Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center.

BEST1 associated bestrophinopathies with angle closure and post-surgical malignant glaucoma.

Generation and characterization of a Stargardt's disease-specific induced pluripotent stem cell line (LVPEIi008-A) with a homozygous nonsense mutation in exon 44 of ABCA4.

Generation of two induced pluripotent stem cell lines (LVPEIi004-A and LVPEIi005-A) from probands with Leber Congenital Amaurosis 2 (LCA2) and harboring mutations in RPE65.

Generation of two induced pluripotent stem cell lines (LVPEIi007-B, LVPEIi008-B) from patients harboring homozygous mutation in ABCA4 (c.6088C>T) using non-integrative Sendai virus-based approach.

Reverse endothelial scraping technique for refractory deep infectious keratitis: Novel surgical technique and outcome evaluation.

Clinical outcomes after implantation of a combination of intrastromal corneal ring segments in different optical zones in advanced keratoconus.

Clinical and epidemiological profiles of vernal keratoconjunctivitis in a tertiary care setting: Association of disease pattern with recurrent attacks.

Surgical interventions in herpes simplex virus keratitis: Outcomes in a large cohort.

Altered expression of miRNAs and its implication for Pseudomonas aeruginosa keratitis.

Correlation of graft-host junction alignment and epithelial thickness with postoperative astigmatism following corneal transplantation.

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome.

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome.

The first 25 years of the NICHD Structural Birth Defects Initiative.

Related Experiment Videos

Of genes and disease

Related Concept Videos

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