Results 81 to 90 of about 7,596 (264)

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source

Dairying enabled Early Bronze Age Yamnaya steppe expansions. [PDF]

Nature, 2021
Wilkin S, Ventresca Miller A, Fernandes R, Spengler R, Taylor WT, Brown DR, Reich D, Kennett DJ, Culleton BJ, Kunz L, Fortes C, Kitova A, Kuznetsov P, Epimakhov A, Zaibert VF, Outram AK, Kitov E, Khokhlov A, Anthony D, Boivin N.   +19 more
europepmc   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Dental wear and oral pathology among sex determined Early Bronze-Age children from Franzhausen I, Lower Austria. [PDF]

PLoS One, 2023
Bas M, Kurzmann C, Willman J, Pany-Kucera D, Rebay-Salisbury K, Kanz F.   +5 more
europepmc   +1 more source

Assessing the viability of genebanked seeds from rare, wild plants native to the United States using the D.E.A.D. paradigm

Applications in Plant Sciences, EarlyView.
Abstract Premise Genebanks must maintain viable seeds for decades. Seeds that germinate are clearly alive, but some seeds, often from wild populations, do not germinate because they are dormant, empty, aged, or damaged (D.E.A.D.). This work evaluates the effects of D.E.A.D.
Christina Walters, Lisa M. Hill, Katherine D. Heineman, Hannah M. Tetreault, Shaimaa Ibrahim, Katherine Markstein, Cheryl Birker, Kris Freitag, Dustin Wolkis, Michael Kunz, Sheila Murray, Nathaniel Kingsley, Alexandra Seglias, Nicholas Matsumoto, Thomas N. Kaye, Cheryl Peterson, Matthew A. Albrecht, Noah Dell, Stacy Anderson, Steve Blackwell, David Remucal, Wendy Gibble, Anita Tiller, Emily Coffey, Jason Ligon, Laurie Blackmore, Carrie Radcliffe, Heather E. Schneider, Kristen Nelson, David Sollenberger, Jessamine Finch, Kate Wellspring, Robert Jetton, Joyce Maschinski   +33 more
wiley   +1 more source

Genetic structure and differentiation from early bronze age in the mediterranean island of sicily: Insights from ancient mitochondrial genomes. [PDF]

Front Genet, 2022
Modi A, Vizzari MT, Catalano G, Boscolo Agostini R, Vai S, Lari M, Vergata C, Zaro V, Liccioli L, Fedi M, Barone S, Nigro L, Lancioni H, Achilli A, Sineo L, Caramelli D, Ghirotto S.   +16 more
europepmc   +1 more source

A critical reappraisal of the carotid sinus and carotid bulb: Distinguishing neurohistological function from vascular geometry

The Anatomical Record, EarlyView.
This review redefines the carotid bulb (CB) as a variable geometric dilation shaped by hemodynamics and the carotid sinus (CS) as a conserved neurohistological baroreceptor field. Distinguishing these entities clarifies a century of anatomical confusion and links geometry, neurohistology, and clinical interpretation within a unified framework ...
Răzvan Costin Tudose, Nicolae Radu, Mugurel Constantin Rusu   +2 more
wiley   +1 more source

Household Rituals and Merchant Caravanners: The Phenomenon of Early Bronze Age Donkey Burials from Tell eṣ-Ṣâfi/Gath, Israel. [PDF]

Animals (Basel), 2022
Greenfield HJ, Ross J, Greenfield TL, Albaz S, Richardson SJ, Maeir AM.   +5 more
europepmc   +1 more source

Under the Shade of a Coolabah Tree: A Second Cache of Tulas From the Boulia District, Western Queensland

Archaeology in Oceania, EarlyView.
ABSTRACT This paper reports on the excavation of a cache of stone artefacts, buried on the bank of a waterhole or ‘billabong’ in central western Queensland. This is an extremely rare find, and yet it is the second such site to be reported within less than a 10 km radius.
Yinika L. Perston, Lynley A. Wallis, Heather Burke, Lorna Bogdanek, Trevina Rogers, Justine Kemp   +5 more
wiley   +1 more source

Who venerated the ancestors at the Petit-Chasseur site? Examining Early Bronze Age cultic activities around megalithic monuments through the archaeometric analyses of ceramic findings (Upper Rhône Valley, Switzerland, 2200-1600 BC). [PDF]

Archaeol Anthropol Sci, 2023
Carloni D, Šegvić B, Sartori M, Zanoni G, Besse M.   +4 more
europepmc   +1 more source