Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Avinaash V. Maharaj"'
Autor:
Avinaash V. Maharaj, Miho Ishida, Anna Rybak, Reem Elfeky, Afiya Andrews, Aakash Joshi, Frances Elmslie, Anni Joensuu, Katri Kantojärvi, Raina Y. Jia, John R. B. Perry, Edel A. O’Toole, Liam J. McGuffin, Vivian Hwa, Helen L. Storr
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Postnatal growth failure is often attributed to dysregulated somatotropin action, however marked genetic and phenotypic heterogeneity exist. We report five patients from three families who present with short stature, immune dysfunction, atop
Externí odkaz:
https://doaj.org/article/b7bd35352d084070b84fa76be410b49c
Autor:
Avinaash V. Maharaj
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Familial Glucocorticoid Deficiency encompasses a broad spectrum of monogenic recessive disorders that theoretically solely abrogate cortisol biosynthesis. In reality, delineating clear genotype-phenotype correlations in this disorder is made complica
Externí odkaz:
https://doaj.org/article/0cfde2b35d7749bc82d2aa33f498f21c
GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients
Autor:
Sumana Chatterjee, Emily Cottrell, Stephen J Rose, Talat Mushtaq, Avinaash V Maharaj, Jack Williams, Martin O Savage, Louise A Metherell, Helen L Storr
Publikováno v:
Endocrine Connections, Vol 9, Iss 3, Pp 211-222 (2020)
Objectives: The homozygous GH receptor (GHR) pseudoexon (6Ψ) mutation leads to growth hormone insensitivity (GHI) with clinical and biochemical heterogeneity. We investigated whether transcript heterogeneity (6Ψ-GHR to WT-GHR transcript ratio) and/
Externí odkaz:
https://doaj.org/article/872e822704c44f148aae5e7f05c2508b
Autor:
Saptarshi Maitra, Christopher Smith, Charlotte Hall, Jordan Read, Avinaash V Maharaj, Marroquin Ramirez Lucia Mariela, Younus Qamar, Rathi Prasad, Li F Chan, Louise A Metherell
Publikováno v:
Endocrine Abstracts.
Publikováno v:
Endocrine Abstracts.
Autor:
Maharaj, Avinaash V., Ishida, Miho, Rybak, Anna, Elfeky, Reem, Andrews, Afiya, Joshi, Aakash, Elmslie, Frances, Joensuu, Anni, Kantojärvi, Katri, Jia, Raina Y., Perry, John R. B., O'Toole, Edel A., McGuffin, Liam J., Hwa, Vivian, Storr, Helen L.
Publikováno v:
Nature Communications; 9/28/2024, Vol. 15 Issue 1, p1-17, 17p
Autor:
Maharaj, Avinaash V.
Publikováno v:
Frontiers in Endocrinology; 2024, p1-10, 10p
Publikováno v:
Gastroenterology Week; 10/14/2024, p573-573, 1p