Results 211 to 220 of about 105,733 (289)

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Phosphoproteomic response to epidermal growth factor in native rat inner medullary collecting duct.

Am J Physiol Renal Physiol
Chou CL, Jayatissa NU, Kichula ET, Ou SM, Limbutara K, Knepper MA.   +5 more
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Independent regulation of Piezo1 activity by principal and intercalated cells of the collecting duct. [PDF]

J Biol Chem
Pyrshev K, Atamanchuk-Stavniichuk A, Kordysh M, Zaika O, Tomilin VN, Pochynyuk O.   +5 more
europepmc   +1 more source

Social Determinants of Health and Health‐Related Quality of Life: The Potential Mediating Role of Social Activities, Access to Medical Services, and Access to Social Services

Australian Journal of Social Issues, EarlyView.
ABSTRACT This study explored the mediating influences of access to social activities, social services, and health and medical services on the relationship between social determinants of health and health‐related quality of life. A survey of 602 adults was conducted in a regional area of Australia.
Candice Oster, Ashleigh Powell, Claire Hutchinson, Richard Leibbrandt, Svetlana Bogomolova   +4 more
wiley   +1 more source

How Do I Answer This? A Queer Critique of Australian Census Forms and the Reification of Cisheteronormative Families

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper presents a critical examination of Australia's 2021 household, individual and interviewer census forms. Using a form‐led analysis, this research scrutinises the underlying cisheteronormative logic that implicitly shapes the Census process, from data collection to distribution of findings.
Xavier Mills, Sal Clark
wiley   +1 more source

GLUT1 and prorenin receptor mediate differential regulation of TGF-β and CTGF in renal inner medullary collecting duct cells during high glucose conditions. [PDF]

Biol Res
Larenas PE, Cárdenas P, Aguirre-Delgadillo M, Moris C, Casarini DE, Vallotton Z, Prieto MC, Gonzalez AA.   +7 more
europepmc   +1 more source

Dynamic Compartmentalisation of Intracellular Sodium in collecting duct cells

, 2022
Assmus A, Mullins L, Sherborne C, Peter A, Early J, Claeyssens F, Haycock JW, Hunter R, Mullins JJ.   +8 more
europepmc   +1 more source

A microscopically assisted limited colectomy mouse model of early colon cancer

Animal Models and Experimental Medicine, EarlyView.
Establishment, surgery, and evaluation process of a microscope‐assisted limited colon resection mouse model for early‐stage colon cancer. Abstract Background Currently, there is a lack of an adequate rodent model for investigating surgical techniques and comprehensive treatment options for patients with colorectal cancer (CRC).
Yu Han, Yixin Zhang, Dazhi Gao, Xuefeng Zhao   +3 more
wiley   +1 more source