{"entity": "researcher", "timestamp": "2026-09-23T21:57:53.374Z", "family": "Varshney", "given": "Gaurav K", "initials": "GK", "orcid": "0000-0002-0429-1904", "affiliations": ["Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, 20892, USA.", "Genes & Human Disease Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/427982d66baf4bfab438a1766071036d.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/427982d66baf4bfab438a1766071036d"}}, "publications": [{"entity": "publication", "iuid": "b133fe25e23448d59edc6b20d0a38b30", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/b133fe25e23448d59edc6b20d0a38b30.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/b133fe25e23448d59edc6b20d0a38b30"}}, "title": "Chondroitin/dermatan sulfate glycosyltransferase genes are essential for craniofacial development.", "authors": [{"family": "Habicher", "given": "Judith", "initials": "J", "orcid": "0000-0002-8691-8650", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4788622ebc424f4e96c8100b99b2294a.json"}}, {"family": "Varshney", "given": "Gaurav K", "initials": "GK", "orcid": "0000-0002-0429-1904", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/427982d66baf4bfab438a1766071036d.json"}}, {"family": "Waldmann", "given": "Laura", "initials": "L", "orcid": "0000-0002-3619-0796", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e7053118951d4bbda72058715017046a.json"}}, {"family": "Snitting", "given": "Daniel", "initials": "D", "orcid": "0000-0001-9704-6336", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7947d4b34495440cb4b0acdbf49bfffb.json"}}, {"family": "Allalou", "given": "Amin", "initials": "A", "orcid": "0000-0003-4028-8443", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/48a26837e4ce48dfada540aa1dbd23cf.json"}}, {"family": "Zhang", "given": "Hanqing", "initials": "H"}, {"family": "Ghanem", "given": "Abdurrahman", "initials": "A", "orcid": "0000-0002-4388-6222", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/71ba79d7402b477ba257510c62900d3b.json"}}, {"family": "\u00d6hman M\u00e4gi", "given": "Caroline", "initials": "C", "orcid": "0000-0003-2709-9541", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2bbc858437bd45f79964add760b31bf6.json"}}, {"family": "Dierker", "given": "Tabea", "initials": "T", "orcid": "0000-0003-1991-2723", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c9ff3f39bc9b48a08cb0f0ad2583f487.json"}}, {"family": "Kjell\u00e9n", "given": "Lena", "initials": "L"}, {"family": "Burgess", "given": "Shawn M", "initials": "SM", "orcid": "0000-0003-1147-0596", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/68cb29ca7d284d7292a0793852d86598.json"}}, {"family": "Ledin", "given": "Johan", "initials": "J", "orcid": "0000-0002-7319-7735", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/08f88f10e2de4379ac9114baf4bddd3d.json"}}], "type": "journal article", "published": "2022-02-00", "journal": {"title": "PLoS Genet", "issn": "1553-7404", "volume": "18", "issue": "2", "pages": "e1010067", "issn-l": "1553-7390"}, "abstract": "Chondroitin/dermatan sulfate (CS/DS) proteoglycans are indispensable for animal development and homeostasis but the large number of enzymes involved in their biosynthesis have made CS/DS function a challenging problem to study genetically. In our study, we generated loss-of-function alleles in zebrafish genes encoding CS/DS biosynthetic enzymes and characterized the effect on development in single and double mutants. Homozygous mutants in chsy1, csgalnact1a, csgalnat2, chpfa, ust and chst7, respectively, develop to adults. However, csgalnact1a-/- fish develop distinct craniofacial defects while the chsy1-/- skeletal phenotype is milder and the remaining mutants display no gross morphological abnormalities. These results suggest a high redundancy for the CS/DS biosynthetic enzymes and to further reduce CS/DS biosynthesis we combined mutant alleles. The craniofacial phenotype is further enhanced in csgalnact1a-/-;chsy1-/- adults and csgalnact1a-/-;csgalnact2-/- larvae. While csgalnact1a-/-;csgalnact2-/- was the most affected allele combination in our study, CS/DS is still not completely abolished. Transcriptome analysis of chsy1-/-, csgalnact1a-/- and csgalnact1a-/-;csgalnact2-/- larvae revealed that the expression had changed in a similar way in the three mutant lines but no differential expression was found in any of fifty GAG biosynthesis enzymes identified. Thus, zebrafish larvae do not increase transcription of GAG biosynthesis genes as a consequence of decreased CS/DS biosynthesis. The new zebrafish lines develop phenotypes similar to clinical characteristics of several human congenital disorders making the mutants potentially useful to study disease mechanisms and treatment.", "doi": "10.1371/journal.pgen.1010067", "pmid": "35192612", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC8896900"}, {"db": "pii", "key": "PGENETICS-D-21-00836"}], "notes": [], "created": "2026-09-23T12:17:33.422Z", "modified": "2026-09-23T12:17:33.586Z"}, {"entity": "publication", "iuid": "4d6b408affba46678169dc55de45439f", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/4d6b408affba46678169dc55de45439f.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/4d6b408affba46678169dc55de45439f"}}, "title": "Amyloid precursor protein-b facilitates cell adhesion during early development in zebrafish.", "authors": [{"family": "Banote", "given": "Rakesh Kumar", "initials": "RK"}, {"family": "Chebli", "given": "Jasmine", "initials": "J"}, {"family": "\u015eat\u0131r", "given": "Tu\u011f\u00e7e Munise", "initials": "TM"}, {"family": "Varshney", "given": "Gaurav K", "initials": "GK", "orcid": "0000-0002-0429-1904", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/427982d66baf4bfab438a1766071036d.json"}}, {"family": "Camacho", "given": "Rafael", "initials": "R", "orcid": "0000-0003-2325-6407", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3780b1445dc344f396ed0d901e2aa9f3.json"}}, {"family": "Ledin", "given": "Johan", "initials": "J"}, {"family": "Burgess", "given": "Shawn M", "initials": "SM", "orcid": "0000-0003-1147-0596", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/68cb29ca7d284d7292a0793852d86598.json"}}, {"family": "Abramsson", "given": "Alexandra", "initials": "A", "orcid": "0000-0002-4715-9225", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a26d10266c5c44548c3514a8196f902a.json"}}, {"family": "Zetterberg", "given": "Henrik", "initials": "H"}], "type": "journal article", "published": "2020-06-23", "journal": {"title": "Sci Rep", "issn": "2045-2322", "volume": "10", "issue": "1", "pages": "10127", "issn-l": "2045-2322"}, "abstract": "Understanding the biological function of amyloid beta (A\u03b2) precursor protein (APP) beyond its role in Alzheimer's disease is emerging. Yet, its function during embryonic development is poorly understood. The zebrafish APP orthologue, Appb, is strongly expressed during early development but thus far has only been studied via morpholino-mediated knockdown. Zebrafish enables analysis of cellular processes in an ontogenic context, which is limited in many other vertebrates. We characterized zebrafish carrying a homozygous mutation that introduces a premature stop in exon 2 of the appb gene. We report that appb mutants are significantly smaller until 2 dpf and display perturbed enveloping layer (EVL) integrity and cell protrusions at the blastula stage. Moreover, appb mutants surviving beyond 48 hpf exhibited no behavioral defects at 6 dpf and developed into healthy and fertile adults. The expression of the app family member, appa, was also found to be altered in appb mutants. Taken together, we show that appb is involved in the initial development of zebrafish by supporting the integrity of the EVL, likely by mediating cell adhesion properties. The loss of Appb might then be compensated for by other app family members to maintain normal development.", "doi": "10.1038/s41598-020-66584-8", "pmid": "32576936", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC7311384"}, {"db": "pii", "key": "10.1038/s41598-020-66584-8"}], "notes": [], "created": "2026-09-23T10:09:14.563Z", "modified": "2026-09-23T10:47:28.795Z"}, {"entity": "publication", "iuid": "60d27c87226741ffbe32d39fa95fd92f", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/60d27c87226741ffbe32d39fa95fd92f.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/60d27c87226741ffbe32d39fa95fd92f"}}, "title": "Amyloid precursor protein-b facilitates cell adhesion during early development in zebrafish", "authors": [{"family": "Banote", "given": "Rakesh Kumar", "initials": "RK", "orcid": "0000-0003-4871-0725", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8716ebe05e4c42d4bdfab3adf24ba9e3.json"}}, {"family": "Chebli", "given": "Jasmine", "initials": "J"}, {"family": "\u015eat\u0131r", "given": "Tu\u011f\u00e7e Munise", "initials": "TM"}, {"family": "Varshney", "given": "Gaurav K", "initials": "GK", "orcid": "0000-0002-0429-1904", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/427982d66baf4bfab438a1766071036d.json"}}, {"family": "Camacho", "given": "Rafael", "initials": "R", "orcid": "0000-0003-2325-6407", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3780b1445dc344f396ed0d901e2aa9f3.json"}}, {"family": "Ledin", "given": "Johan", "initials": "J", "orcid": "0000-0002-7319-7735", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/08f88f10e2de4379ac9114baf4bddd3d.json"}}, {"family": "Burgess", "given": "Shawn M", "initials": "SM", "orcid": "0000-0002-9586-5511", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d7f64aca705b487e9d1e5edc19614cb9.json"}}, {"family": "Abramsson", "given": "Alexandra", "initials": "A", "orcid": "0000-0002-4715-9225", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a26d10266c5c44548c3514a8196f902a.json"}}, {"family": "Zetterberg", "given": "Henrik", "initials": "H", "orcid": "0000-0003-3930-4354", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/18365a2ea4ec4ca2baeb657cd1c8bd8f.json"}}], "type": "posted-content", "published": "2019-10-05", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/795187", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-09-23T14:40:29.405Z", "modified": "2026-09-23T14:40:29.594Z"}]}