Results 31 to 40 of about 1,410,958 (292)

Herlyn-Werner-Wunderlich syndrome : a rare genitourinary anomaly in females : a series of four cases [PDF]

, 2018
We present case series of four patients with an important syndrome known as Herlyn-Werner-Wunderlich syndrome. Herlyn-Werner-Wunderlich syndrome is a rare congenital anomaly characterised by uterus didelphys with blind hemivagina and ipsilateral renal ...
Ilyas, Mohd, Khan, Insha, Saldanha, Cimona L.   +2 more
core   +1 more source

Association between congenital toxoplasmosis and preterm birth, low birthweight and small for gestational age birth.

, 2005
OBJECTIVE: To determine the association between congenital toxoplasmosis and preterm birth, low birthweight and small for gestational age birth. DESIGN: Multicentre prospective cohort study.
Ancelle T, Andersen AM, Aspock H, Der G, EMSCOT, Foulon W, Freeman JV, Gilmore DH, Gilmore DH, Gras L, Hohlfeld P, Jenum PA, Kliegman RM, Morris JA, Neto EC, Nybo Andersen AM, Paul M, Sever JL, Wilson CB   +18 more
core   +1 more source

Possible role of TORCH agents in congenital malformations in Gorgan, northern Islamic Republic of Iran [PDF]

, 2009
This descriptive, cross-sectional study was carried out to explore the frequency of contamination with TORCH agents in neonates with congenital malformations in a referral centre in Gorgan city, Islamic Republic of Iran.
Ghaemi, E., Golalipour, M.J., Khodabakhshi, B.   +2 more
core   +1 more source

The role of histone modifications in transcription regulation upon DNA damage

FEBS Letters, EarlyView.
This review discusses the critical role of histone modifications in regulating gene expression during the DNA damage response (DDR). By modulating chromatin structure and recruiting repair factors, these post‐translational modifications fine‐tune transcriptional programmes to maintain genomic stability.
Angelina Job Kolady, Siyao Wang
wiley   +1 more source

Progressive familial intrahepatic cholestasis type 4: a case report

Journal of Medical Case Reports
Background Progressive familial intrahepatic cholestasis is an autosomal recessive genetic disorder that manifests primarily with jaundice and pruritus and can progresses from persistent cholestasis to cirrhosis and late childhood liver failure ...
Mohamed Abdelmalak Abokandil, Saber Waheeb, Wessam Zaghloul, Manal Abdelgawad, Mona Abdelhady, Mohamed Mansy, Mostafa Kotb   +6 more
doaj   +1 more source

Congenital malformations at a referral hospital in Gorgan, Islamic Republic of Iran [PDF]

, 2005
This study recorded the rate of congenital malformations in 10 000 births at a referral hospital in Gorgan, Islamic Republic of Iran in 1998-99. The overall incidence of congenital malformations was 1.01% (1.19% in males and 0.76% in females).
Ahmadpour-Kacho, M., Golalipour, M.J., Vakili, M.A.   +2 more
core  

Frequency of the Congenital Transmission of Trypanosoma cruzi: A Systematic Review and Meta-Analysis [PDF]

, 2013
BACKGROUND: Chagas disease is caused by the parasite Trypanosoma cruzi and is endemic in much of Latin America. With increased globalisation and immigration, it is a risk in any country, partly through congenital transmission. The frequency of congenital
Buekens, Pierre, Carlier, Yves, Howard, Elizabeth J., Sosa-estani, Sergio Alejandro, Xiong, Xu   +4 more
core   +1 more source

The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells

FEBS Open Bio, EarlyView.
We performed nanopore whole‐transcriptome sequencing comparing RNA from Hnrnpl‐knockdown versus control C2C12 myoblasts to investigate the contributions of Hnrnpl to muscle development. Our results indicate that Hnrnpl regulates the expression of genes involved with Notch signaling and skeletal muscle, particularly splicing patterns of specific muscle ...
Hannah R. Littel, Mekala Gunasekaran, Audrey L. Daugherty, Natalya M. Wells, Johnnie Turner, Christine C. Bruels, Christina A. Pacak, Isabelle Draper, Peter B. Kang   +8 more
wiley   +1 more source

Homologous expression and purification of human HAX‐1 for structural studies

FEBS Open Bio, EarlyView.
This research protocol provides detailed instructions for cloning, expressing, and purifying large quantities of the intrinsically disordered human HAX‐1 protein, N‐terminally fused to a cleavable superfolder GFP, from mammalian cells. HAX‐1 is predicted to undergo posttranslational modifications and to interact with membranes, various cellular ...
Mariana Grieben
wiley   +1 more source

Molecular determinants of signal transduction in tropomyosin receptor kinases

FEBS Open Bio, EarlyView.
Tropomyosin receptor kinases control critical neuronal functions, but how do the same receptors produce diverse cellular responses? This review explores the structural mechanisms behind Trk signaling diversity, focusing on allosteric modulation and ligand bias.
Giray Enkavi
wiley   +1 more source