Results 231 to 240 of about 204,393 (382)

Effects of the Missense Variants on Complete Phenotype and Splicing Variant on Severe Growth Retardation in the BPTF Gene

Developmental Neurobiology, Volume 85, Issue 3, July 2025.
ABSTRACT Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL, OMIM no #617755) is an ultra‐rare syndrome associated with heterozygous pathogenic variants in the BPTF gene. Haploinsufficiency of the BPTF gene, a chromatin remodeling gene that is related to epigenetic modification, is the cause of this disease.
Gül Ünsel‐Bolat, Hamide Betul Gerik‐Celebi, Betül Diler Durgut, Ayberk Türkyılmaz, Hilmi Bolat   +4 more
wiley   +1 more source

New Insights Into Upper Messinian Microbial Carbonates: A Dendrolite-Thrombolite Build-Up From the Salento Peninsula, Central Mediterranean. [PDF]

Geobiology
Vescogni A, Colombo F, Guido A.
europepmc   +1 more source

Impaired Proteostasis is Linked to Neurological Pathology in a Zebrafish NGLY1 Deficiency Model

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT NGLY1 is a key enzyme in the process of misfolded protein deglycosylation. Bi‐allelic pathogenic variants in NGLY1 cause N‐glycanase deficiency, also known as congenital disorder of deglycosylation (NGLY1‐CDDG). This rare and multisystem autosomal recessive disorder is linked to a variable phenotype of global developmental delay, neuromuscular
Aviv Mesika, Golan Nadav, Sapir Ben‐David, Limor Kalfon, Chen Shochat, Rana Nasra, Alejandro Livoff, David Karasik, Tzipora C. Falik‐Zaccai   +8 more
wiley   +1 more source

Depositional model of the fan delta of thick glutenite: Example from the Linhe Depression, Hetao Basin, China. [PDF]

Sci Prog
Hao X, Yang X, Cao B, Wang H, Wu C, Li C, Qu L, Li J, Pan Y, Hu X.   +9 more
europepmc   +1 more source

Lithium Isotope Evidence for Enhanced Continental Weathering at ∼1.4 Ga

Geophysical Research Letters, Volume 52, Issue 12, 28 June 2025.
Abstract The Mesoproterozoic (ca. 1.6–1.0 Ga) is primarily characterized by pervasive tectonic stasis under greenhouse climate. However, the coeval weathering regime still remains elusive. Here, we conduct comprehensive investigations (including detrital δ7Li values, elemental compositions, and clay mineral assemblage) on the 1.4‐billion‐year‐old iron ...
Kang Liu, Shuichang Zhang, Xiaomei Wang, Yuntao Ye, Pengyuan Zhang, Wenyao Xiao, Yuke Liu, Yitong Lyu   +7 more
wiley   +1 more source

Features of Karst Paleogeomorphology and Sedimentary Environment of Ordovician Majiagou Formation in Eastern Ordos Basin. [PDF]

ACS Omega
Chen Z, Zhao Z, Gao J, Zhang Y, Xu W, Bai Y, Zhang Y, Lai Y, Wang C.   +8 more
europepmc   +1 more source

Stratigraphic Relationships at the western Edge of the Middle Cambrian Carbonate Facies Belt, Field, British Columbia

, 1974
Ian A. McIlreath
openalex   +1 more source

COARSE FACIES, ACROMEGALOID FEATURES AND LOW SERUM THYROXINE IN A BOY ON LONG-TERM ANTICONVULSANT THERAPY [PDF]

, 1974
Lytt I. Gardner, Lee Ann Wallach, Tania Gregory   +2 more
openalex   +1 more source

Natural History of NAA15 ‐Related Neurodevelopmental Disorder Through Adolescence

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT The NatA N‐terminal acetyltransferase complex is composed of the NAA10 catalytic subunit and the auxiliary subunits NAA15 and HYPK. While those with variants in the enzymatic subunit develop Ogden Syndrome, individuals with variants in the NAA15 coding region develop NAA15‐related neurodevelopmental syndrome, which presents with a wide array ...
Rikhil Makwana, Carolina Christ, Rahi Patel, Elaine Marchi, Randie Harpell, Gholson J. Lyon   +5 more
wiley   +1 more source

Zeolite Facies Metamorphism, Geochemistry and Some Aspects of Trace Element Redistribution in Altered Basalts of DSDP, Leg 37

, 1977
A. J. Andrews, Robert L. Barnett, B.A.E. MacClement, W. S. Fyfe, Gregg W. Morrison, N. D. MacRae, John Starkey   +6 more
openalex   +1 more source