M. Chaki

发表

Loss of diacylglycerol kinase epsilon in mice causes endothelial distress and impairs glomerular Cox-2 and PGE2 production.

C. Mohan, R. Quigg, M. Topham, 2016, American journal of physiology. Renal physiology.

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

S. Levy, C. Dang, R. Lewis, 2010, Nature Genetics.

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

F. Hildebrandt, Susan J Allen, E. Otto, 2013, Human Genetics.

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

N. Katsanis, P. Beales, H. Kayserili, 2009, Journal of Medical Genetics.

Genetic landscape of the people of India: a canvas for disease gene exploration

Ashutosh Kumar Singh, Amitabh Sharma, J. Kumar, 2008, Journal of Genetics.

The Indian Genome Variation database (IGVdb): a project overview

Debasis Dash, Ashutosh Kumar Singh, Arijit Mukhopadhyay, 2005, Human Genetics.

Consortium IGVThe Indian Genome Variation database (IGVdb): a project overview. Hum Genet 118:1-11

B. C. Mishra, Gajendra P.S. Raghava, Amitabh Sharma, 2005 .

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

J. Heckenlively, F. Hildebrandt, Susan J Allen, 2011, Kidney international.

Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients.

K. Ray, M. Sengupta, Abhisek Bhattacharya, 2011, The Journal of investigative dermatology.

Tyrosinase and ocular diseases: Some novel thoughts on the molecular basis of oculocutaneous albinism type 1

K. Ray, M. Sengupta, M. Chaki, 2007, Progress in Retinal and Eye Research.

Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene

K. Ray, M. Sengupta, S. Samanta, 2010, The British journal of dermatology.

Determination of variants in the 3′‐region of the Tyrosinase gene requires locus specific amplification

K. Ray, A. Mukhopadhyay, M. Chaki, 2005, Human mutation.

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.

Emily H Turner, J. Shendure, D. Nickerson, 2013, American journal of human genetics.

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

M. Rosenfeld, S. Levy, H. Omran, 2013, American journal of human genetics.

SLC45A2 variations in Indian oculocutaneous albinism patients.

K. Ray, M. Sengupta, M. Chaki, 2007, Molecular vision.

OCA1 in Different Ethnic Groups of India is Primarily Due to Founder Mutations in the Tyrosinase Gene

K. Ray, M. Sengupta, A. Mukhopadhyay, 2006, Annals of human genetics.

Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene.

M. Das, K. Ray, A. Mukhopadhyay, 2005, Molecular vision.

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Corinne Stoetzel, Richard A. Lewis, Colin A. Johnson, 2012, Cell.

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

V. Pertegato, Y. Raphael, H. Prokisch, 2011, The Journal of clinical investigation.

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

H. Moch, S. Levy, T. Hurd, 2012, Nature Genetics.

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

F. Hildebrandt, Susan J Allen, E. Otto, 2013, Human Genetics.

Loss of Glis2/NPHP7 causes kidney epithelial cell senescence and suppresses cyst growth in the Kif3a mouse model of cystic kidney disease.

P. Igarashi, M. Attanasio, A. Jetten, 2016, Kidney international.

A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies

S. Cheung, D. M. Martin, S. Gebarski, 2009, American journal of medical genetics. Part A.

Whole exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

S. Levy, N. Katsanis, T. Hurd, 2013, Kidney international.

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

H. Omran, Susan J Allen, R. Lyons, 2012, Journal of Medical Genetics.

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

K. Tory, A. Nayır, C. Antignac, 2009, Journal of Medical Genetics.

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

Colin A. Johnson, T. Hurd, D. Milford, 2010, Journal of Medical Genetics.

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.

M. Rosenfeld, H. Omran, T. Hurd, 2013, American journal of human genetics.

Explorer FAN 1 mutations cause karyomegalic interstitial nephritis , linking chronic kidney failure to defective DNA damage repair

H. Moch, S. Levy, T. Hurd, 2017 .

FAN 1 mutations cause karyomegalic interstitial nephritis , linking chronic kidney failure to defective DNA damage repair

Soliman, Agata, Kerstin, 2013 .

Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.

M. Attanasio, C. Bergmann, F. Schaefer, 2014, Journal of the American Society of Nephrology : JASN.

Chromosomal aberrations in arsenic-exposed human populations: a review with special reference to a comprehensive study in West Bengal, India

A. Natarajan, A. Giri, K. Ray, 2004, Cytogenetic and Genome Research.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.

Bethan E. Hoskins, D. Seelow, H. Prokisch, 2010, The Journal of clinical investigation.

Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion

A. Nayır, F. Hildebrandt, Susan J Allen, 2011, Pediatric Nephrology.

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Colin A. Johnson, S. Levy, Shaohui Wang, 2012, Cell.

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

Colin A. Johnson, T. Hurd, D. Milford, 2010, Journal of Medical Genetics.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (Journal of Clinical Investigation (2010) 120, 3 (791-802) DOI: 10.1172/JCI40076)

Bethan E. Hoskins, D. Seelow, H. Prokisch, 2010 .

SNPs in genes with copy number variation: A question of specificity

Mainak Sengupta, Kunal Ray, K. Ray, 2008, Journal of Genetics.

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.

M. Rosenfeld, H. Omran, T. Hurd, 2013, American journal of human genetics.

Barriers to gBRCA Testing in High-Risk HER2-Negative Early Breast Cancer

G. Gustavsen, J. Hayes, M. Chaki, 2023, Journal of personalized medicine.