Results 71 to 80 of about 1,253,968 (181)

Variation in phenotypes from a Bmp-Gata3 genetic pathway is modulated by Shh signaling.

PLoS Genetics, 2021
We sought to understand how perturbation of signaling pathways and their targets generates variable phenotypes. In humans, GATA3 associates with highly variable defects, such as HDR syndrome, microsomia and choanal atresia.
Mary E Swartz, C Ben Lovely, Johann K Eberhart   +2 more
doaj   +1 more source

Functional assessment of inherited myeloid neoplasm‐associated SAMD9L germline variants via Monoallelic CRISPR modelling

British Journal of Haematology, Volume 209, Issue 4, Page 1538-1548, October 2026.
Summary While the majority of myeloid neoplasms are sporadic, the increasing application of germline genetic testing has led the World Health Organization to designate ‘Myeloid malignancies with germline predisposition’ as a distinct clinical entity, carrying major implications for clinical care and research.
Elena Vuelta, Alessandro Liquori, Matias Morín, Lucia Soletto, Miguel Ángel Marugal, Marta Santiago‐Balsera, Miguel Gallardo, Miguel Ángel Moreno‐Pelayo, José Cervera, Alejandra Sanjuan‐Pla   +9 more
wiley   +1 more source

Translating Evidence for Early Intervention in Psychosis (TRANSLATE): Protocol for Evaluating the Implementation of Early Intervention in Psychosis in Low and Lower‐Middle Income Countries (LMICs)

Early Intervention in Psychiatry, Volume 20, Issue 10, October 2026.
ABSTRACT Background In high‐income countries, early intervention in psychosis (EIP) services provide treatment for first episode psychosis (FEP) as early as possible, proven to effectively improve health outcomes. These services rarely exist in low‐ and lower‐middle‐income countries (LMICs).
Saeed Farooq, Nishani Fonseka, Nalinda Wellappuli, Abbie Milner, Saima Sheikh, Abdul Jalil Khan, Mian Mukhtar‐ul‐Haq Azeemi, Muhammad Firaz Khan, Laila Noushad, Imtiaz Ahmad Dogar, Aftab Alam Khan, Hazrat Ali Khan, Moin Ahmed Ansari, Athula Sumathipala, Rumi Ruben, Ivonne Solis‐Trapala   +15 more
wiley   +1 more source

SYNDROME OF HYPOPARATHYROIDISM, DEAFNESS AND RENAL DISEASE (HDR) IN A 7 YEARS OLD BOY AT BAHAWALPUR

Pakistan Armed Forces Medical Journal, 2020
Syndrome of (hypoparathyroidism, deafness and renal disease) HDS is a rare autosomal dominant syndrome which is characterized by triad of hypoparathyroidism, sensorineural hearing loss and renal disease.
Sumera Akram, Muhammad Ahmed Khan
doaj   +6 more sources

Leaders Are Somethin' Else: Behavioural Variation Associated With Roles During Tandem Running Recruitment

Ethology, Volume 132, Issue 10, Page 719-731, October 2026.
In this study, we found moderate to strong repeatabilities in behavioural variables measuring the personality traits: activity, aggressiveness and exploration. Similarly, the probability of acting as a leader during tandem running in an emigration event was moderately (R = 0.469) repeatable.
Maria Eduarda Lima Vieira, Lucia C. Neco, Gabrielle Winandy, Nicolas Châline, Heiko G. Rödel   +4 more
wiley   +1 more source

Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene

Frontiers in Endocrinology
ObjectiveThis study aims to summarize the diagnostic and treatment experience of a case of Hypoparathyroidism-Sensorineural Hearing Loss-Renal Dysplasia (HDR) syndrome caused by a heterozygous mutation in the GATA3 gene.MethodsThe diagnostic and ...
Haibin Chen, Haibin Chen, Yudi Zhang, Xueyao Yang, Xueyao Yang, Yongzhen Li   +5 more
doaj   +1 more source

Relationship Between Hip Fracture and New Onset of Cognitive Impairment Using the National Health and Aging Trends Study

Journal of the American Geriatrics Society, Volume 74, Issue 10, Page 2878-2887, October 2026.
Cognitive outcomes in the unmatched and matched primary samples, stratified by hip fracture status. ABSTRACT Background Hip fractures are more common in persons with dementia, and there is likely a complex relationship with cognition. Hypothesizing that a fracture may precipitate cognitive decline, we (a) assessed the association between hip fracture ...
Priya Singh, Justin Tiao, Raj G. Kumar, Jashvant Poeran, David A. Forsh, Brocha Z. Stern   +5 more
wiley   +1 more source

Efficient and sustained FOXP3 locus editing in hematopoietic stem cells as a therapeutic approach for IPEX syndrome

Molecular Therapy: Methods & Clinical Development
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a monogenic disorder caused by mutations in the FOXP3 gene, required for generation of regulatory T (Treg) cells.
Swati Singh, Cole M. Pugliano, Yuchi Honaker, Aidan Laird, M. Quinn DeGottardi, Ezra Lopez, Stefan Lachkar, Claire Stoffers, Karen Sommer, Iram F. Khan, David J. Rawlings   +10 more
doaj   +1 more source

Preclinical feasibility of EPID‐based transit dosimetry for total body irradiation

Journal of Applied Clinical Medical Physics, Volume 27, Issue 9, September 2026.
Abstract Background Conventional extended‐distance total body irradiation (TBI) is commonly verified using point dosimeters, which provide limited spatial information and require additional handling during a prolonged treatment procedure. A portable charge‐coupled device (CCD)‐based electronic portal imaging device (EPID) positioned downstream of the ...
Tetsu Nakaichi, Hiroyuki Okamoto, Mitsuhiro Kon, Kazuki Takaso, Ako Aikawa, Satoshi Nakamura, Kotaro Iijima, Takahito Chiba, Hiroki Nakayama, Tomonori Goka, Hiroshi Igaki   +10 more
wiley   +1 more source

Child with hypocalcaemia: a rare case of HDR syndrome

International Journal of Contemporary Pediatrics
Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by the triad of Hypoparathyroidism (H), nerve Deafness (D) and/or renal disease caused by mutation of the GATA3 gene located at chromosome 10p15. This syndrome is very rare with exact prevalence not known and only few cases are reported in the literature.
Jewel Maria George, Carol Sara Cherian, Rajeev Philip, Sebin Sunnychan   +3 more
openaire   +1 more source