ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini+8 more
wiley +1 more source
Improved synapsis dynamics accompany meiotic stability in <i>Arabidopsis arenosa</i> autotetraploids. [PDF]
Gonzalo A, Nayak A, Bomblies K.
europepmc +1 more source
Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio+13 more
wiley +1 more source
Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly
ABSTRACT Synpolydactyly (SPD) is a heterogeneous distal‐limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease‐causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome‐negative
Jonathan Rips+9 more
wiley +1 more source
A haplotype-resolved chromosome-level genome assembly of Urochloa decumbens cv. Basilisk resolves its allopolyploid ancestry and composition. [PDF]
Ryan C+9 more
europepmc +1 more source
Human meiosis VIII. Chromosome pairing and formation of the synaptonemal complex in oocytes
M. Bojko
semanticscholar +1 more source
A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone+11 more
wiley +1 more source
Data-driven analyses of human antibody variable domain germlines: pairings, sequences and structural features. [PDF]
Seidler CA+5 more
europepmc +1 more source
ABSTRACT Non‐syndromic Retinitis Pigmentosa (NsRP) was well known as one of the causes of visual impairment already in the 19th century. Giuseppe Albertotti, Professor of Ophthalmology at the University of Modena (Italy) in 1893, described a high prevalence of NsRP in a geographic isolate, the small village of Colloro, in northwestern Italy.
Andrea Guala+8 more
wiley +1 more source
The Power Duo: How the Interplay Between Nucleoid-Associated Proteins and Small Noncoding RNAs Orchestrates the Cellular Regulatory Symphony. [PDF]
Moutacharrif S+6 more
europepmc +1 more source