Results 241 to 250 of about 42,079 (286)

New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri‐Weill Dyschondrosteosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SHOX gene haploinsufficiency is associated with Léri‐Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS) and could be caused by the structural and point mutations in the coding region and by the deletions in SHOX gene regulatory sequences. The role of the duplications in regulatory sequences is ambivalent.
Valeriia Kopytko, Katerina Hirschfeldova, Pavlina Capkova, Roman Solc   +3 more
wiley   +1 more source

Unique TCR loci architecture in newts: TRA and TRD separation in <i>Pleurodeles waltl</i>. [PDF]

Front Immunol
Migalska M, Babik W.
europepmc   +1 more source

A Karyological Study on Peziza subumbrina BOUD.,with Special Reference to a Heteromorphic Pair of Chromosomes

, 1934
Hajime Matsuura, Anbu Gondo
openalex   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Splitting Haploid Chromosomes into Different Nuclei: New Mechanisms of Adaptation in Fungi? [PDF]

J Fungi (Basel)
Liu L, Kronstad JW, Wu Z.
europepmc   +1 more source

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Meiotic progression in multinuclear mouse spermatocytes without the spindle pole clustering motor protein KIFC1 or cytokinesis forms single-cell late-stage spermatids. [PDF]

Sci Rep
Simerly C, Hartnett C, Zyhowski A, Robertson E, Harrison C, Cho IK, Easley C, Schatten G.   +7 more
europepmc   +1 more source

The synaptonemal complex stabilizes meiosis in allotetraploid Brassica napus and autotetraploid Arabidopsis thaliana. [PDF]

New Phytol
Zhang Y, Lv F, Wan Z, Geng M, Chu L, Cai B, Zhuang J, Ge X, Schnittger A, Yang C.   +9 more
europepmc   +1 more source

Development of two compatible plasmids to assess sRNA-mediated post-transcriptional regulation in <i>Acinetobacter baumannii</i>. [PDF]

Microbiology (Reading)
Mogre A, Connell O, White J, Shaibah A, Hokamp K, Hamrock FJ, Schauer K, Kröger C.   +7 more
europepmc   +1 more source