Results 81 to 90 of about 25,212 (153)

A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans

Clinical Genetics, EarlyView.
We identified a homozygous frameshift variant in KHDC4 (c.1535_1538del: (p.Lys512Argfs*8) in a consanguineous family with syndromic Retinitis Pigmentosa. Functional characterization shows aberrant protein mislocalisation from nuclear speckles to a diffuse pattern.
Asodu Sandeep Sarma, Neta Barnoy, Prakadeeswari Gopalakrishnan, Keren Dichter, Rotem Mizrachi, Manar Salameh, Eyal Banin, Dror Sharon, Adi Inbal, Samer Khateb   +9 more
wiley   +1 more source

A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott–Rallison syndrome

Diabetic Medicine, EarlyView.
Abstract Aim Deep intronic variants can disrupt splicing and cause monogenic disease but are missed by routine genetic testing. This study assessed the contribution of deep intronic variants to Wolcott–Rallison syndrome (WRS), a recessive disorder characterized by early‐onset diabetes and progressive multisystem disease caused by loss‐of‐function ...
Alaa Al Assi, Georgia Bonfield, James Russ‐Silsby, Suhel Ahmed, Thomas W. Laver, Kadri Karaer, Bayram Özhan, Ayca Altincik, Kashyap A. Patel, Jayne A. L. Houghton, Sarah E. Flanagan, Matthew B. Johnson, Elisa De Franco   +12 more
wiley   +1 more source

Coordinated regulation of PIEZO2 by alternative splicing, post‐translational modification, membrane trafficking and protein partners

The Journal of Physiology, EarlyView.
Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise, Qinglu Li, Mary G. Garry   +2 more
wiley   +1 more source

UPF1 regulates mRNA stability by sensing poorly translated coding sequences

Cell Reports
Summary: Post-transcriptional mRNA regulation shapes gene expression, yet how cis-elements and mRNA translation interface to regulate mRNA stability is poorly understood.
Damir Musaev, Mario Abdelmessih, Charles E. Vejnar, Valeria Yartseva, Linnea A. Weiss, Ethan C. Strayer, Carter M. Takacs, Antonio J. Giraldez   +7 more
doaj   +1 more source

A Combination of Alleles in LMOD2 and a lncRNA is Strongly Associated With Myxomatous Mitral Valve Disease in Cavalier King Charles Spaniels

Animal Genetics, Volume 57, Issue 5, October 2026.
ABSTRACT A previous genome‐wide association study identified regions on canine chromosome (cfa) 13 and 14 associated with early onset myxomatous mitral valve disease (MMVD) in Cavalier King Charles Spaniels (CKCS). In the present study, whole genome sequencing (WGS) of 9 CKCS cases (mitral regurgitation (MR) before 4.5 years or congestive heart failure
Lisbeth Høier Olsen, Arney Eva Gunnlaugsdóttir, Majbritt Busk Madsen, Isabella Jane Larsen, Maria Josefine Ubbe Reimann, Foteini Papadaki, Ingrid Ljungvall, Jens Häggström, Torben Martinussen, Henrik Duelund Pedersen, Torkel Falk, Merete Fredholm, Peter Karlskov‐Mortensen   +12 more
wiley   +1 more source

Long Term Follow Up of Hereditary Thrombotic Thrombocytopenic Purpura on Plasma Therapy for 9 Years: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT A 7.6‐year‐old boy with hTTP had fever‐induced hemorrhagic rash, MAHA, cerebral infarction, and renal impairment. After plasma therapy, symptoms were partially relieved; 9‐year follow‐up showed regular plasma transfusion was needed, with CKD Stage 3.
Dai Xiaomei, Chen Ruyue, Wu Shuang, Tang Hanyun, Lin Qiang, Li Xiaozhong   +5 more
wiley   +1 more source

Impaired Motor Function in a Zebrafish Stathmin‐2 Knockout Model

Developmental Neurobiology, Volume 86, Issue 4, October 2026.
ABSTRACT Stathmin‐2 (STMN2) is a microtubule‐associated protein that plays a role in the stability of microtubules in axons of the nervous system of animals. In this study, we generated a novel zebrafish STMN2 knockout (KO) model. STMN2 is represented by two genes in the zebrafish genome: stmn2a and stmn2b.
Tyler J. N. Gurberg, Ziyaan A. Harji, Christian J. Rampal, Joséphine Sacy‐Richer, Amy Wang, Esteban C. Rodríguez, Gary A. B. Armstrong   +6 more
wiley   +1 more source

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1 ‐Related Noonan Syndrome

Clinical Genetics, Volume 110, Issue 4, Page 502-507, October 2026.
This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska, Barbara Kalina‐Faska, Ewa Błaszczyk, Aneta Gawlik‐Starzyk   +3 more
wiley   +1 more source

Genetic landscape of a neonatal hypogonadotropic hypogonadism series: Novel variants and phenotypic spectrum

Journal of Neuroendocrinology, Volume 38, Issue 10, October 2026.
Abstract To describe clinical presentation and genetic findings in a cohort of infants with congenital hypogonadotropic hypogonadism (CHH) diagnosed before 2 years of age. From a large cohort of patients who underwent next‐generation sequencing (NGS) for CHH between 2019 and 2025, we identified all patients tested at ≤2 years of age.
Karine Aouchiche, Laure Van Wormhoudt, Kevin Perge, Joanne Dornberger, Cindy Colson, Marine Delagrange, Clara Leroy, Jennifer Ledmazel, Vanessa Menut, Jessica Benarrous Jaillet, Djamel Bendifallah, Mohamad Hage Chehade, Christelle Dib, Anne Barlier, Thierry Brue, Rachel Reynaud, Alexandru Saveanu   +16 more
wiley   +1 more source

Estrogen/Esr2b signaling‐dependent, female‐biased expression of a neuropeptide Y gene in the medaka brain

Journal of Neuroendocrinology, Volume 38, Issue 10, October 2026.
Abstract A recent study showed that female medaka lacking the estrogen receptor gene esr2b are unreceptive to male courtship and instead court other females. In this study, we investigated the brain transcriptome of esr2b‐deficient females to explore the underlying mechanisms of this behavioral phenotype, and identified npyb, one of the two ...
Yuki Homan, Yuji Nishiike, Mika Sato‐Tsukamoto, Daisuke Saito, Mikita Suyama, Yasuyuki Ohkawa, Fumiya Takahashi, Takashi Baba, Ken‐ichirou Morohashi, Kataaki Okubo   +9 more
wiley   +1 more source