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Another four bricks in the wall

Of all the things humans can bestow names upon, new chemical elements are about the rarest. Our group of periodic table experts attempts to read the tea leaves and predict the names for elements 113, 115, 117 and 118.

Shawn C. Burdette
Philip Ball
Brett F. Thornton
Comments & Opinion22 Mar 2016
Nature Chemistry

Volume: 8, P: 283-288
Permeability scaling relationships of volcanic tuff from core to field scale measurements

Dolan D. Lucero
S. Michelle Bourret
Cleat Zeiler
ResearchOpen Access15 Apr 2025
Scientific Reports

Volume: 15, P: 1-14
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Friedhelm Hildebrandt and colleagues combine homozygosity mapping with candidate exome capture and high-throughput sequencing to identify SDCCAG8 mutations as the cause of a retinal-renal ciliopathy. They further show that SDCCAG8 localizes to centrioles and that its depletion causes renal cysts and cell polarity defects.

Edgar A Otto
Toby W Hurd
Friedhelm Hildebrandt
Research12 Sept 2010
Nature Genetics

Volume: 42, P: 840-850
Slow TCA flux and ATP production in primary solid tumours but not metastases

As solid tumours develop, cancer cells shed energetically expensive tissue-specific functions, enabling uncontrolled growth despite a limited ability to produce ATP.

Caroline R. Bartman
Daniel R. Weilandt
Joshua D. Rabinowitz
Research01 Feb 2023
Nature

Volume: 614, P: 349-357
Mitochondrial uncoupling links lipid catabolism to Akt inhibition and resistance to tumorigenesis

Aerobic glycolysis and diminished oxidative phosphorylation exhibited by tumour cells enables the production of energy necessary to support malignant proliferation. Here the authors show that UCP3 promotes mitochondrial uncoupling and prevents tumorigenesis through a mitochondrially-driven pathway of AKT inhibition.

Sara M. Nowinski
Ashley Solmonson
Edward M. Mills
ResearchOpen Access27 Aug 2015
Nature Communications

Volume: 6, P: 1-12
One way to help science: become Republican

In the US, science has increasingly taken a backstage to politics in policy decisions. But as the country enters the presidential primary season this month, one of the most counterintuitive but effective ways for researchers to make a difference may be to join the GOP.

Shawn Lawrence Otto
Comments & Opinion06 Jan 2012
Nature Medicine

Volume: 18, P: 17
A second update on mapping the human genetic architecture of COVID-19

Masahiro Kanai
Shea J. Andrews
Matthew Solomonson
ResearchOpen Access06 Sept 2023
Nature

Volume: 621, P: E7-E26
Deciphering the impact of genomic variation on function

The Impact of Genomic Variation on Function Consortium is combining single-cell mapping, genomic perturbations and predictive modelling to investigate relationships between human genomic variation, genome function and phenotypes and will provide an open resource to the community.

Jesse M. Engreitz
Heather A. Lawson
Ella K. Samer
Reviews04 Sept 2024
Nature

Volume: 633, P: 47-57
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

Friedhelm Hildebrandt, Agata Smogorzewska and colleagues show that mutations in the DNA repair gene FAN1 cause karyomegalic interstitial nephritis. These findings implicate deficient DNA damage response signaling in the pathophysiology of renal fibrosis.

Weibin Zhou
Edgar A Otto
Friedhelm Hildebrandt
Research08 Jul 2012
Nature Genetics

Volume: 44, P: 910-915
Patterns and rates of exonic de novo mutations in autism spectrum disorders

Exome sequencing of 175 autism spectrum disorder parent–child trios reveals that few de novo point mutations have a role in autism spectrum disorder and those that do are distributed across many genes and are incompletely penetrant, further supporting extreme genetic heterogeneity of this spectrum disorder.

Benjamin M. Neale
Yan Kou
Mark J. Daly
Research04 Apr 2012
Nature

Volume: 485, P: 242-245
Sexual homomorphism in dioecious trees: extensive tests fail to detect sexual dimorphism in Populus

Athena D. McKown
Jaroslav Klápště
Quentin C. B. Cronk
ResearchOpen Access12 May 2017
Scientific Reports

Volume: 7, P: 1-14
Amino acids in cancer

Elizabeth L. Lieu
Tu Nguyen
Jiyeon Kim
ReviewsOpen Access24 Jan 2020
Experimental & Molecular Medicine

Volume: 52, P: 15-30

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Another four bricks in the wall

Permeability scaling relationships of volcanic tuff from core to field scale measurements

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Slow TCA flux and ATP production in primary solid tumours but not metastases

Mitochondrial uncoupling links lipid catabolism to Akt inhibition and resistance to tumorigenesis

One way to help science: become Republican

A second update on mapping the human genetic architecture of COVID-19

Deciphering the impact of genomic variation on function

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Sexual homomorphism in dioecious trees: extensive tests fail to detect sexual dimorphism in Populus

Amino acids in cancer

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