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Akademický článek

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)

Abstract THOC6 variants are the genetic basis of autosomal recessive THOC6 Intellectual Disability Syndrome (TIDS). THOC6 is critical for mammalian Transcription Export complex (TREX) tetramer formation, which is composed of four six-subunit THO mono

Externí odkaz: https://doaj.org/article/377fd67c893b4d0eba289bde1408f26e

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Akademický článek

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13

Publikováno v: npj Genomic Medicine, Vol 8, Iss 1, Pp 1-10 (2023)

Abstract Spondyloepimetaphyseal dysplasia with severe short stature, RPL13-related (SEMD-RPL13), MIM#618728), is a rare autosomal dominant disorder characterized by short stature and skeletal changes such as mild spondylar and epimetaphyseal dysplasi

Externí odkaz: https://doaj.org/article/7fd8ea3e8a5a439794ea10065835754b

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Akademický článek

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)

Sclerosing bone disorder (SBD) includes a broad spectrum of monogenic diseases characterised by increased bone density. Here, the authors describe a previously unknown SBD in four families caused by mutations in TMEM53 and demonstrate the role this p

Externí odkaz: https://doaj.org/article/39666f07f5524b20abbe44216deb698c

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Akademický článek

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)

Abstract Marfan syndrome and related disorders are a group of heritable connective tissue disorders and share many clinical features that involve cardiovascular, skeletal, craniofacial, ocular, and cutaneous abnormalities. The majority of affected in

Externí odkaz: https://doaj.org/article/f21f727d6c214802940b31d4975ffaa6

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Akademický článek

Myelomonocytic leukaemia (JMML) in a child with intellectual disability and chromosome 4q deletion

Autor: Harsha Prasada Lashkari, Naga Venkata Sirisha Andey, Nanda Kumar, Katta M. Girisha

Publikováno v: Pediatric Hematology Oncology Journal, Vol 6, Iss 2, Pp 88-90 (2021)

JMML is a rare aggressive type of leukaemia seen in children. It is often seen with syndromes such as Noonan, and neurofibromatosis type 1. Rarely it can be a sporadic event. The pathogenesis of myeloproliferation in this condition is due to the acti

Externí odkaz: https://doaj.org/article/4a26ea10a9c44a96887af0259a5b3c51

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Akademický článek

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Publikováno v: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-11 (2019)

Abstract Background Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads to the glucocerebrosidase enzyme deficiency and an increased accumulation of undegraded glycolipid g

Externí odkaz: https://doaj.org/article/ed485e77876d41b99aa48a8d477af5c9

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Akademický článek

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature

Autor: Elyssa Cannaerts, Anju Shukla, Mensuda Hasanhodzic, Maaike Alaerts, Dorien Schepers, Lut Van Laer, Katta M. Girisha, Iva Hojsak, Bart Loeys, Aline Verstraeten

Publikováno v: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-13 (2018)

Abstract Background Mutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typically more severe

Externí odkaz: https://doaj.org/article/d0f83f1afa7b4a4bb15e3385ed6429ce

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Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis

Autor: Prajna Udupa, Debasish Kumar Ghosh, Neethukrishna Kausthubham, Hitesh Shah, Sandip Bartakke, Ashwin Dalal, Katta M Girisha, Gandham SriLakshmi Bhavani

Publikováno v: Journal of Human Genetics. 68:287-290

Autosomal recessive osteopetrosis (ARO) is a rare genetic disorder caused by impaired osteoclast activity. In this study, we describe a 4-year-old boy with increased bone density due to osteopetrosis, autosomal recessive 8. Using genome sequencing, w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e318aa29d98116d92d012aa918019f66
https://doi.org/10.1038/s10038-022-01104-2

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Perspectives on the future of dysmorphology

Autor: Benjamin D. Solomon, Margaret P. Adam, Chin‐To Fong, Katta M. Girisha, Judith G. Hall, Anna C. E. Hurst, Peter M. Krawitz, Shahida Moosa, Shubha R. Phadke, Cedrik Tekendo‐Ngongang, Tara L. Wenger

Publikováno v: American Journal of Medical Genetics Part A. 191:659-671

The field of clinical genetics and genomics continues to evolve. In the past few decades, milestones like the initial sequencing of the human genome, dramatic changes in sequencing technologies, and the introduction of artificial intelligence, have u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f1667fa9a02ecead264f9cfb35a48ed
https://doi.org/10.1002/ajmg.a.63060

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