Nature Search

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Analysis of snRNA genes in individuals with rare disorders identifies de novo and recurrent variants in RNU5B-1 and RNU5A-1, in addition to previously unreported cases with pathogenic or likely pathogenic variants in RNU4-2.

Caroline Nava
Benjamin Cogne
Christel Depienne
ResearchOpen Access16 May 2025
Nature Genetics

Volume: 57, P: 1374-1388
Author Correction: Skeletal and extraskeletal disorders of biomineralization

Michael T. Collins
Gemma Marcucci
Rajesh V. Thakker
Amendments and Corrections17 Oct 2022
Nature Reviews Endocrinology

Volume: 19, P: 62
Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia

This Consensus Statement provides robust clinical evidence on the multidisciplinary management of children and adults with X-linked hypophosphataemia, with an emphasis on patients’ experiences and needs. It is the outcome of a working group of the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases.

Andrea Trombetti
Nasser Al-Daghri
René Rizzoli
Reviews28 Apr 2022
Nature Reviews Endocrinology

Volume: 18, P: 366-384
Publisher Correction: Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

Dieter Haffner
Francesco Emma
Agnès Linglart
Amendments and Corrections04 Feb 2025
Nature Reviews Nephrology

Volume: 21, P: 355
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib

Murat Bastepe
Leopold F Fröhlich
Harald Jüppner
Research12 Dec 2004
Nature Genetics

Volume: 37, P: 25-27
Cytosolic sequestration of the vitamin D receptor as a therapeutic option for vitamin D-induced hypercalcemia

Current therapeutic strategies for vitamin D-induced hypercalcemia are poorly efficient. Here the authors identify a new interaction between the vitamin D receptor (VDR) and WBP4 controlling the subcellular localization of VDR and show that ZK168281, a VDR antagonist, enhances the interaction between VDR and WBP4 blunting VDR signalling and normalizing calcium levels in vitamin D-intoxicated mice.

Daniela Rovito
Anna Y. Belorusova
Daniel Metzger
ResearchOpen Access07 Dec 2020
Nature Communications

Volume: 11, P: 1-11
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

This Consensus Statement gives recommendations for the diagnosis and management of patients with pseudohypoparathyroidism and related disorders. A coordinated and multidisciplinary approach from infancy through adulthood is recommended to improve the care of these patients.

Giovanna Mantovani
Murat Bastepe
Agnès Linglart
ReviewsOpen Access29 Jun 2018
Nature Reviews Endocrinology

Volume: 14, P: 476-500
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

The management of X-linked hypophosphataemia has evolved owing to the availability of burosumab. In this Evidence-Based Guideline, the authors provide updated clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia with the aim of improving patient outcomes and quality of life.

Dieter Haffner
Francesco Emma
Agnès Linglart
Reviews15 Jan 2025
Nature Reviews Nephrology

Volume: 21, P: 330-354
Diagnosis and management of Silver–Russell syndrome: first international consensus statement

Silver–Russell syndrome (SRS) is an imprinting disorder that causes prenatal and postnatal growth retardation. This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with SRS, including the use of growth hormone and gonadotropin-releasing hormone analogues.

Emma L. Wakeling
Frédéric Brioude
Irène Netchine
ReviewsOpen Access02 Sept 2016
Nature Reviews Endocrinology

Volume: 13, P: 105-124
Skeletal and extraskeletal disorders of biomineralization

This Review considers the principal regulators of the processes of biomineralization and crystallization in human physiology. In addition, disorders of biomineralization are discussed, including bone disorders and disorders of extraskeletal mineralization.

Michael T. Collins
Gemma Marcucci
Rajesh V. Thakker
Reviews16 May 2022
Nature Reviews Endocrinology

Volume: 18, P: 473-489
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

In this Evidence-Based Guideline on X-linked hypophosphataemia, the authors identify the criteria for diagnosis of this disease, provide guidance for medical and surgical treatment and explain the challenges of follow-up.

Dieter Haffner
Francesco Emma
Agnès Linglart
ReviewsOpen Access08 May 2019
Nature Reviews Nephrology

Volume: 15, P: 435-455
Dental impact of anti-fibroblast growth factor 23 therapy in X-linked hypophosphatemia

Elis J. Lira dos Santos
Kenta Nakajima
Claire Bardet
ResearchOpen Access06 Dec 2023
International Journal of Oral Science

Volume: 15, P: 1-10
Dental pulp stem cells as a promising model to study imprinting diseases

Eloïse Giabicani
Aurélie Pham
Irène Netchine
ResearchOpen Access02 Apr 2022
International Journal of Oral Science

Volume: 14, P: 1-8
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

Intza Garin
Giovanna Mantovani
Ralf Werner
Reviews09 Jul 2014
European Journal of Human Genetics

Volume: 23, P: 438-444

Search

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Author Correction: Skeletal and extraskeletal disorders of biomineralization

Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia

Publisher Correction: Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib

Cytosolic sequestration of the vitamin D receptor as a therapeutic option for vitamin D-induced hypercalcemia

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

Skeletal and extraskeletal disorders of biomineralization

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

Dental impact of anti-fibroblast growth factor 23 therapy in X-linked hypophosphatemia

Dental pulp stem cells as a promising model to study imprinting diseases

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

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