Nature Search

The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A

L. J. Valentijn
P. A. Bolhuis
F. Baas
Research01 Jun 1992
Nature Genetics

Volume: 1, P: 166-170
Advances in understanding the pathogenesis of primary Sjögren's syndrome

In the past decade, knowledge of the pathogenesis of primary Sjögren's syndrome and the lymphomagenesis associated with this disease has advanced considerably. This Review summarizes our current understanding of these processes, highlighting the importance of crosstalk between the innate and adaptive immune systems.

Gaëtane Nocturne
Xavier Mariette
Reviews16 Jul 2013
Nature Reviews Rheumatology

Volume: 9, P: 544-556
Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay–Sachs disease

Ivo Tews
Anastassis Perrakis
Constantin E. Vorgias
Research01 Jul 1996
Nature Structural Biology

Volume: 3, P: 638-648
Mutation of the gene encoding cellular retinaldehyde–binding protein in autosomal recessive retinitis pigmentosa

Marion A. Maw
Breandan Kennedy
Michael J. Denton
Research01 Oct 1997
Nature Genetics

Volume: 17, P: 198-200
Characterization of 64-, 123- and 182-base-pair exons in the mouse α2(IV) collagen gene

Markku Kurkinen
Michael P. Bernard
Louise T. Chow
Research12 Sept 1985
Nature

Volume: 317, P: 177-179
Control of Thyroglobulin Secretion in Patients with Ectopic Thyroid Gland

J Leger
A Tar
P Czernichow
Research01 Mar 1988
Pediatric Research

Volume: 23, P: 266-269
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Julien Barc
Rafik Tadros
Connie R. Bezzina
Amendments and Corrections26 Apr 2022
Nature Genetics

Volume: 54, P: 735
The impact of regulation-based constraints on portfolio selection: The Spanish case

E. Grizickas Sapkute
M. A. Sánchez-Granero
J. E. Trinidad Segovia
ResearchOpen Access14 Sept 2022
Humanities and Social Sciences Communications

Volume: 9, P: 1-14
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Genome-wide association analyses identify new susceptibility loci for Brugada syndrome. Functional studies implicate microtubule-related trafficking effects on sodium channel expression as an underlying molecular mechanism.

Julien Barc
Rafik Tadros
Connie R. Bezzina
Research24 Feb 2022
Nature Genetics

Volume: 54, P: 232-239
Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours

Z Sedlacek
R Kodet
P Goetz
Research01 Apr 1998
British Journal of Cancer

Volume: 77, P: 1034-1039
Molecular and structural studies of the GM2 gangliosidosis 0 variant

H. Sakuraba
F. Matsuzawa
E. Uyama
Research01 Apr 2002
Journal of Human Genetics

Volume: 47, P: 176-183
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

Daniel Bernard, Jan Wit, Mehul Dattani, Krishna Chatterjee and colleagues show that mutations in IGSF1 cause a new X-linked syndrome characterized by central hypothyroidism and testicular enlargement. Their findings implicate IGSF1 as a positive regulator of thyrotropin-releasing hormone signaling in the anterior pituitary.

Yu Sun
Beata Bak
Daniel J Bernard
Research11 Nov 2012
Nature Genetics

Volume: 44, P: 1375-1381
Should variants of unknown significance (VUS) be disclosed to patients in cardiogenetics or not; only in case of high suspicion of pathogenicity?

Saskia N. van der Crabben
Stellan Mörner
Arthur A. M. Wilde
Reviews26 Aug 2022
European Journal of Human Genetics

Volume: 30, P: 1208-1210
Imaging the antimicrobial mechanism(s) of cathelicidin-2

Viktoria A. F. Schneider
Maarten Coorens
Edwin J. A. Veldhuizen
ResearchOpen Access14 Sept 2016
Scientific Reports

Volume: 6, P: 1-11
Leukocyte glucocorticoid receptor expression and immunoregulation in veterans with and without post-traumatic stress disorder

C S de Kloet
E Vermetten
C J Heijnen
Research23 Jan 2007
Molecular Psychiatry

Volume: 12, P: 443-453

Search

The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A

Advances in understanding the pathogenesis of primary Sjögren's syndrome

Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay–Sachs disease

Mutation of the gene encoding cellular retinaldehyde–binding protein in autosomal recessive retinitis pigmentosa

Characterization of 64-, 123- and 182-base-pair exons in the mouse α2(IV) collagen gene

Control of Thyroglobulin Secretion in Patients with Ectopic Thyroid Gland

Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

The impact of regulation-based constraints on portfolio selection: The Spanish case

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours

Molecular and structural studies of the GM2 gangliosidosis 0 variant

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

Should variants of unknown significance (VUS) be disclosed to patients in cardiogenetics or not; only in case of high suspicion of pathogenicity?

Imaging the antimicrobial mechanism(s) of cathelicidin-2

Leukocyte glucocorticoid receptor expression and immunoregulation in veterans with and without post-traumatic stress disorder

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